{
    "uniprot_canonical_ac": "A2ATU0-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "sp|A2ATU0-1|DHTK1_MOUSE Isoform 1 of Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial  OS=Mus musculus OX=10090 GN=Dhtkd1 PE=1 SV=1 CANONICAL=A2ATU0-1", 
        "length": 921, 
        "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ"
    }, 
    "uniprot_id": "", 
    "glycation": [], 
    "keywords": [], 
    "species": [
        {
            "common_name": "Mouse", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                    "id": "A2ATU0", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Mus musculus", 
            "taxid": 10090
        }
    ], 
    "reaction_enzymes": [
        {
            "gene_name": "Dhtkd1", 
            "uniprot_ac": "A2ATU0", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                            "id": "A2ATU0", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                            "id": "A2ATU0", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Dld", 
            "uniprot_ac": "O08749", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/O08749", 
                            "id": "O08749", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.8.1.4", 
                    "activity": "Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/O08749", 
                            "id": "O08749", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.8.1.4", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Pdha1", 
            "uniprot_ac": "P35486", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P35486", 
                            "id": "P35486", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P35486", 
                            "id": "P35486", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Pdha2", 
            "uniprot_ac": "P35487", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P35487", 
                            "id": "P35487", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P35487", 
                            "id": "P35487", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Bckdha", 
            "uniprot_ac": "P50136", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P50136", 
                            "id": "P50136", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.4", 
                    "activity": "3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P50136", 
                            "id": "P50136", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.4", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Dbt", 
            "uniprot_ac": "P53395", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P53395", 
                            "id": "P53395", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.168", 
                    "activity": "2-methylpropanoyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2-methylpropanoyl)dihydrolipoyl)lysine."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/P53395", 
                            "id": "P53395", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.168", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "OGDH", 
            "uniprot_ac": "Q02218", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q02218", 
                            "id": "Q02218", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q02218", 
                            "id": "Q02218", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Dhtkd1", 
            "uniprot_ac": "Q4KLP0", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q4KLP0", 
                            "id": "Q4KLP0", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q4KLP0", 
                            "id": "Q4KLP0", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Ogdh", 
            "uniprot_ac": "Q5XI78", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q5XI78", 
                            "id": "Q5XI78", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q5XI78", 
                            "id": "Q5XI78", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Ogdh", 
            "uniprot_ac": "Q60597", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q60597", 
                            "id": "Q60597", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q60597", 
                            "id": "Q60597", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Bckdhb", 
            "uniprot_ac": "Q6P3A8", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q6P3A8", 
                            "id": "Q6P3A8", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.4", 
                    "activity": "3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q6P3A8", 
                            "id": "Q6P3A8", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.4", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Dlat", 
            "uniprot_ac": "Q8BMF4", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q8BMF4", 
                            "id": "Q8BMF4", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.12", 
                    "activity": "Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysine."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q8BMF4", 
                            "id": "Q8BMF4", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.12", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Lipt1", 
            "uniprot_ac": "Q8VCM4", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q8VCM4", 
                            "id": "Q8VCM4", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.-", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "DHTKD1", 
            "uniprot_ac": "Q96HY7", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q96HY7", 
                            "id": "Q96HY7", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q96HY7", 
                            "id": "Q96HY7", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.2", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Pdhb", 
            "uniprot_ac": "Q9D051", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q9D051", 
                            "id": "Q9D051", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": "Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2)."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q9D051", 
                            "id": "Q9D051", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "1.2.4.1", 
                    "activity": ""
                }
            ]
        }, 
        {
            "gene_name": "Dlst", 
            "uniprot_ac": "Q9D2G2", 
            "activity": [
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q9D2G2", 
                            "id": "Q9D2G2", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.61", 
                    "activity": "Succinyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-succinyldihydrolipoyl)lysine."
                }, 
                {
                    "evidence": [
                        {
                            "url": "https://www.uniprot.org/uniprot/Q9D2G2", 
                            "id": "Q9D2G2", 
                            "database": "UniProtKB"
                        }
                    ], 
                    "ec_number": "2.3.1.61", 
                    "activity": ""
                }
            ]
        }
    ], 
    "publication": [
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/12520002", 
                    "type": "PubMed", 
                    "id": "12520002"
                }
            ], 
            "title": "BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.", 
            "journal": "Nucleic acids research", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE", 
            "date": "2003"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/23806337", 
                    "type": "PubMed", 
                    "id": "23806337"
                }
            ], 
            "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", 
            "journal": "Mol. Cell", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                    "id": "A2ATU0", 
                    "database": "UniProtKB"
                }
            ], 
            "authors": "Chen Y., Park J., Zhang Y., Zhao Y., Peng C., Tan M., Xie Z., Zwaans B.M., Lombard D.B., Dai L., Tishkoff D.X., Skinner M.E.", 
            "date": "2013"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/24029230", 
                    "type": "PubMed", 
                    "id": "24029230"
                }
            ], 
            "title": "Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.", 
            "journal": "Cancer cell", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Nagamachi A, Matsui H, Asou H, Ozaki Y, Aki D, Kanai A, Takubo K, Suda T, Nakamura T, Wolff L, Honda H, Inaba T", 
            "date": "2013"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/25215496", 
                    "type": "PubMed", 
                    "id": "25215496"
                }
            ], 
            "title": "Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population.", 
            "journal": "Cell", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Wu Y, Williams EG, Dubuis S, Mottis A, Jovaisaite V, Houten SM, Argmann CA, Faridi P, Wolski W, Kutalik Z, Zamboni N, Auwerx J, Aebersold R", 
            "date": "2014"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/28545977", 
                    "type": "PubMed", 
                    "id": "28545977"
                }
            ], 
            "title": "Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.", 
            "journal": "Biochimica et biophysica acta. Molecular basis of disease", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Biagosch C, Ediga RD, Hensler SV, Faerberboeck M, Kuehn R, Wurst W, Meitinger T, Kolker S, Sauer S, Prokisch H", 
            "date": "2017"
        }, 
        {
            "reference": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/pubmed/29661920", 
                    "type": "PubMed", 
                    "id": "29661920"
                }
            ], 
            "title": "DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.", 
            "journal": "Molecular and cellular biology", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ], 
            "authors": "Xu WY, Zhu H, Shen Y, Wan YH, Tu XD, Wu WT, Tang L, Zhang HX, Lu SY, Jin XL, Fei J, Wang ZG", 
            "date": "2018"
        }
    ], 
    "uniprot_ac": "A2ATU0", 
    "gene_names": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "C330018I04Rik"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "Dhtkd1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Dhtkd1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "Kiaa1630"
        }
    ], 
    "reactions": [
        {
            "output_participant_list": [], 
            "evidence": [
                {
                    "url": "https://www.rhea-db.org/rhea/12188", 
                    "id": "12188", 
                    "database": "Rhea"
                }
            ], 
            "name": "", 
            "cellular_location": "plasma membrane", 
            "equation": "2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) = [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-(S(8)-succinyldihydrolipoyl)-L-lysine + CO2", 
            "input_participant_list": [], 
            "enzyme_list": [
                "Q5XI78-1", 
                "Q4KLP0-1", 
                "Q96HY7-1", 
                "Q02218-1", 
                "Q60597-1", 
                "A2ATU0-1"
            ], 
            "id": "12188", 
            "summary": ""
        }, 
        {
            "output_participant_list": [
                "R-MMU-5693951"
            ], 
            "evidence": [
                {
                    "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-6792572", 
                    "id": "R-MMU-6792572", 
                    "database": "Reactome"
                }
            ], 
            "name": "LIPT1 transfers lipoyl group from lipoyl-GCSH to DHs", 
            "cellular_location": "plasma membrane", 
            "equation": "", 
            "input_participant_list": [], 
            "enzyme_list": [
                "Q60597-1", 
                "Q9D2G2-1", 
                "Q9D051-1", 
                "P53395-1", 
                "Q8BMF4-1", 
                "O08749-1", 
                "A2ATU0-1", 
                "Q8VCM4-1", 
                "P35486-1", 
                "P50136-1", 
                "Q6P3A8-1", 
                "P35487-1"
            ], 
            "id": "R-MMU-6792572", 
            "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.<p>The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.<p><a href='/electronic_inference_compara.html' target = 'NEW'>More details and caveats of the event inference in Reactome.</a> For details on PANTHER see also: <a href='http://www.pantherdb.org/about.jsp' target='NEW'>http://www.pantherdb.org/about.jsp</a>"
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0#A2ATU0-1", 
            "isoform_ac": "A2ATU0-1", 
            "locus": {
                "end_pos": 5898711, 
                "strand": "+", 
                "start_pos": 5942671, 
                "chromosome": "2", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSMUST00000026924", 
                        "id": "ENSMUST00000026924", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSMUSP00000026924", 
                        "id": "ENSMUSP00000026924", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "sp|A2ATU0-1|DHTK1_MOUSE Isoform 1 of Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial  OS=Mus musculus OX=10090 GN=Dhtkd1 PE=1 SV=1 CANONICAL=A2ATU0-1", 
                "length": 921, 
                "sequence": "MASAATVAAAGRALRRAVLLLRRGYQTERGVYGYRPRKAKSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVRTLQGPFTTTGLLNLGKEAASLEEVLAYLNHIYCGPISIETAQLQSQEERDWFARRFEELKKETFTTEERKYLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVATIGDVLSHLTSSVDLDFGAHQPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSREDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIVDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKTSYYTKLNDHLANVAHYSPPATNLQARWQGLVQPEACVTTWDTGVPLELLRFIGVKSVEVPEELQVHSHLLKMYVQSRMEKVKNGSGLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQDTDDAYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPTLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPEHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMIRNFRKPLIVASPKMLLRYPAAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGTKKHDFAIIRLEELCPFPLDALQQEMSKYKHVRDVIWSQEEPQNMGPWSFVSPRFEKQLACRLRLVSRPPLPAPAVGIGTVHQQQHEDILSKTFTQ"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209692", 
            "resource": "KEGG Pathway", 
            "id": "mmu:209692", 
            "name": ""
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", 
            "description": "Glyoxylate metabolism and glycine degradation", 
            "resource": "Reactome", 
            "id": "R-MMU-389661", 
            "name": "Glyoxylate metabolism and glycine degradation"
        }
    ], 
    "reaction_participants": [
        {
            "crossref": [
                {
                    "url": "", 
                    "id": "Q91WK5", 
                    "database": "UniProt"
                }, 
                {
                    "url": "", 
                    "id": "Q91WK5", 
                    "database": "PRO"
                }, 
                {
                    "url": "", 
                    "id": "ENSMUST00000040484", 
                    "database": "Ensembl"
                }, 
                {
                    "url": "", 
                    "id": "NP_080848.1", 
                    "database": "RefSeq"
                }, 
                {
                    "url": "", 
                    "id": "ENSMUSG00000034424", 
                    "database": "Ensembl"
                }, 
                {
                    "url": "", 
                    "id": "2EDG", 
                    "database": "PDB"
                }, 
                {
                    "url": "", 
                    "id": "1915383", 
                    "database": "MGI"
                }, 
                {
                    "url": "", 
                    "id": "ENSMUSP00000037131", 
                    "database": "Ensembl"
                }
            ], 
            "participant_name": "Gcsh [mitochondrial matrix]", 
            "participant_id": "R-MMU-5693951"
        }
    ], 
    "function": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
            "annotation": "Dhtkd1(-/-) mice mimic the major aspects of CMT2 phenotypes, characterized by progressive weakness and atrophy in the distal parts of limbs with motor and sensory dysfunctions, which are accompanied with decreased nerve conduction velocity. Moreover, DHTKD1 deficiency causes severe metabolic abnormalities and dramatically increased levels of 2-ketoadipic acid (2-KAA) and 2-aminoadipic acid (2-AAA) in urine. Publication Status: Online-Only", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
            "annotation": "Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
            "annotation": "In the BXD mouse population, natural variants in Dhtkd1 lead to changes in metabolite levels of 2-aminoadipate and in turn are associated with diabetes status, independently of chow or high fat diet feeding.", 
            "evidence": [
                {
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
                    "id": "NP_001074600.1", 
                    "database": "RefSeq"
                }
            ]
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0#function", 
            "annotation": "The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A2ATU0#function", 
                    "id": "A2ATU0", 
                    "database": "UniProtKB"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "Q4KLP0-1", 
            "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", 
            "sequence": {
                "length": 920, 
                "sequence": "MASATVAAAGRALRRAVPLLRRSYQTERGVYGYRPRKAGSGEPRGDRARPSVDHGLARLVTVYCEHGHKAAQINPLFPGQALLDTVPEIQALVQTLQGPFTTTGLLNMGKEEASLEEVLAYLNHIYCGPISIETAQLQSQEEKDWFARRFEELKKETFTTEERKHLSKLLLESQEFDHFLATKFATVKRYGGEGAESMMGFFHELLKLSAYGGITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPENVAAIGDVLSHLTSSVDLDFGAHRPLHVTMLPNPSHLEAINPVAVGKTRGRQQSQEDGDYSPNGSAQPGDKVICLQVHGDASFCGQGIVLETFTLSNLPHFRIGGSIHLIVNNQLGYTTPAERGRSSLYSSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFFTNPVMYKIIRARKSIPDTYAEHLIASGLMTQEEVSDIKASYYAKLNGHLANVAHYSPPAPHLQARWQGLVQPAACVTTWDTGVPLELLRFVGVKSVEVPEELQLHSHLLKMYVQSRMEKVKNGTNLDWATAETLALGSLLAQGFNVRLSGQDVGRGTFSQRHAMVVCQNTDDVYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGLVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDSDTVNMFVVHPTTPAQYFHLLRRQMMRNFRKPLIVASPKMLLRYPVAVSTLEEMAPGTAFKPVIGDSSVDPKNVKTLIFCSGKHFYALLKQRESLGAKKRDFAIIRLEELCPFPLDSLQQEMGKYKHVQDIIWSQEEPQNMGPWSFVYPRFEKQLACKLRLVSRPPLPAPAVGIGTVHQQQHEAILFKTFTS"
            }, 
            "evidence": [
                {
                    "url": "https://omabrowser.org/oma/group/A2ATU0/", 
                    "id": "A2ATU0", 
                    "database": "OMA"
                }, 
                {
                    "url": "http://www.informatics.jax.org/homology/10278", 
                    "id": "10278", 
                    "database": "MGI"
                }
            ], 
            "common_name": "Rat", 
            "organism": "Rattus norvegicus", 
            "gene_name": "Dhtkd1", 
            "tax_id": 10116
        }, 
        {
            "uniprot_canonical_ac": "Q96HY7-1", 
            "protein_name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", 
            "sequence": {
                "length": 919, 
                "sequence": "MASATAAAARRGLGRALPLFWRGYQTERGVYGYRPRKPESREPQGALERPPVDHGLARLVTVYCEHGHKAAKINPLFTGQALLENVPEIQALVQTLQGPFHTAGLLNMGKEEASLEEVLVYLNQIYCGQISIETSQLQSQDEKDWFAKRFEELQKETFTTEERKHLSKLMLESQEFDHFLATKFSTVKRYGGEGAESMMGFFHELLKMSAYSGITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPENFSATGDVLSHLTSSVDLYFGAHHPLHVTMLPNPSHLEAVNPVAVGKTRGRQQSRQDGDYSPDNSAQPGDRVICLQVHGDASFCGQGIVPETFTLSNLPHFRIGGSVHLIVNNQLGYTTPAERGRSSLYCSDIGKLVGCAIIHVNGDSPEEVVRATRLAFEYQRQFRKDVIIDLLCYRQWGHNELDEPFYTNPIMYKIIRARKSIPDTYAEHLIAGGLMTQEEVSEIKSSYYAKLNDHLNNMAHYRPPALNLQAHWQGLAQPEAQITTWSTGVPLDLLRFVGMKSVEVPRELQMHSHLLKTHVQSRMEKMMDGIKLDWATAEALALGSLLAQGFNVRLSGQDVGRGTFSQRHAIVVCQETDDTYIPLNHMDPNQKGFLEVSNSPLSEEAVLGFEYGMSIESPKLLPLWEAQFGDFFNGAQIIFDTFISGGEAKWLLQSGIVILLPHGYDGAGPDHSSCRIERFLQMCDSAEEGVDGDTVNMFVVHPTTPAQYFHLLRRQMVRNFRKPLIVASPKMLLRLPAAVSTLQEMAPGTTFNPVIGDSSVDPKKVKTLVFCSGKHFYSLVKQRESLGAKKHDFAIIRVEELCPFPLDSLQQEMSKYKHVKDHIWSQEEPQNMGPWSFVSPRFEKQLACKLRLVGRPPLPVPAVGIGTVHLHQHEDILAKTFA"
            }, 
            "evidence": [
                {
                    "url": "https://omabrowser.org/oma/group/A2ATU0/", 
                    "id": "A2ATU0", 
                    "database": "OMA"
                }, 
                {
                    "url": "http://www.informatics.jax.org/homology/10278", 
                    "id": "10278", 
                    "database": "MGI"
                }
            ], 
            "common_name": "Human", 
            "organism": "Homo sapiens", 
            "gene_name": "DHTKD1", 
            "tax_id": 9606
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [], 
    "cluster_types": [
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }, 
        {
            "name": "homologset.mgi", 
            "label": "MGI Homologs"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
        "ac": "NP_001074600.1", 
        "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030976", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "thiamine pyrophosphate binding", 
                        "id": "GO:0030976"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004591", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "oxoglutarate dehydrogenase (succinyl-transferring) activity", 
                        "id": "GO:0004591"
                    }
                ], 
                "total": 2, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "mitochondrion", 
                        "id": "GO:0005739"
                    }
                ], 
                "total": 1, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", 
                        "pmid": "24029230", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "hematopoietic progenitor cell differentiation", 
                        "id": "GO:0002244"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "generation of precursor metabolites and energy", 
                        "id": "GO:0006091"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "tricarboxylic acid cycle", 
                        "id": "GO:0006099"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A2ATU0", 
                                "id": "A2ATU0", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "glycolytic process", 
                        "id": "GO:0006096"
                    }
                ], 
                "total": 4, 
                "name": "Biological Process"
            }
        ]
    }, 
    "site_annotation": [
        {
            "end_pos": 319, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 317
        }, 
        {
            "end_pos": 568, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 566
        }
    ], 
    "pro_annotation": [], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000025815", 
            "id": "ENSMUSG00000025815", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/209692", 
            "id": "209692", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.ebi.ac.uk/intact/interactors/id:A2ATU0*", 
            "id": "A2ATU0", 
            "database": "IntAct"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR001017", 
            "id": "IPR001017", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR005475", 
            "id": "IPR005475", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR011603", 
            "id": "IPR011603", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR029061", 
            "id": "IPR029061", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR031717", 
            "id": "IPR031717", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR042179", 
            "id": "IPR042179", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209692", 
            "id": "mmu:209692", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "http://www.informatics.jax.org/marker/MGI:2445096", 
            "id": "2445096", 
            "database": "MGI"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/GMAIDNP/", 
            "id": "GMAIDNP", 
            "database": "OMA"
        }, 
        {
            "url": "http://www.orthodb.org/?query=134699at2759", 
            "id": "134699at2759", 
            "database": "OrthoDB"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23152", 
            "id": "PTHR23152", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF00676", 
            "id": "PF00676", 
            "database": "Pfam"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF02779", 
            "id": "PF02779", 
            "database": "Pfam"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF16870", 
            "id": "PF16870", 
            "database": "Pfam"
        }, 
        {
            "url": "http://purl.obolibrary.org/obo/PR_PR_A2ATU0", 
            "id": "PR_A2ATU0", 
            "database": "PRO"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-389661", 
            "id": "R-MMU-389661", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600", 
            "id": "NP_001074600", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074600.1", 
            "id": "NP_001074600.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "https://www.rhea-db.org/rhea/12188", 
            "id": "12188", 
            "database": "Rhea"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
            "id": "A2ATU0", 
            "database": "UniProtKB"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0-1", 
            "id": "A2ATU0-1", 
            "database": "UniProtKB"
        }
    ], 
    "expression_disease": [], 
    "glycosylation": [], 
    "mutagenesis": [], 
    "disease": [
        {
            "disease_id": "DOID:0110170", 
            "synonyms": [
                {
                    "url": "http://disease-ontology.org/term/DOID:0110170", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", 
                    "id": "DOID:0110170"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:0110170", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "CMT2Q", 
                    "id": "DOID:0110170"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:0110170", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", 
                    "id": "DOID:0110170"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:0110170", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth neuropathy type 2Q", 
                    "id": "DOID:0110170"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.", 
                    "name": "Charcot-Marie-Tooth disease axonal type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth neuropathy, type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth disease, axonal, type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "DHTKD1 Charcot-Marie-Tooth disease", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth disease caused by mutation in DHTKD1", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth disease type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "autosomal dominant Charcot-Marie-Tooth disease type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "CMT2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0014012", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Charcot-Marie-Tooth neuropathy type 2Q", 
                    "id": "MONDO:0014012"
                }, 
                {
                    "url": "https://www.omim.org/entry/615025", 
                    "resource": "MIM", 
                    "description": "Charcot-Marie-Tooth disease 2Q", 
                    "name": "Charcot-Marie-Tooth disease 2Q", 
                    "id": "MIM:615025"
                }
            ], 
            "recommended_name": {
                "url": "http://disease-ontology.org/term/DOID:0110170", 
                "resource": "Disease Ontology", 
                "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.", 
                "name": "Charcot-Marie-Tooth disease axonal type 2Q", 
                "id": "DOID:0110170"
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0110170#disease-associations", 
                    "id": "0110170", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "disease_id": "DOID:0111453", 
            "synonyms": [
                {
                    "url": "http://disease-ontology.org/term/DOID:0111453", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "alpha-aminoadipic aciduria", 
                    "id": "DOID:0111453"
                }, 
                {
                    "url": "http://disease-ontology.org/term/DOID:0111453", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "AMOXAD", 
                    "id": "DOID:0111453"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0008774", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "2-aminoadipic 2-oxoadipic aciduria", 
                    "id": "MONDO:0008774"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0008774", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "Alpha-aminoadipic aciduria", 
                    "id": "MONDO:0008774"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0008774", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "2-aminoadipic 2-oxoadipic aciduria", 
                    "id": "MONDO:0008774"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0008774", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "2-aminoadipic 2-oxoadipic aciduria; AMOXAD", 
                    "id": "MONDO:0008774"
                }, 
                {
                    "url": "https://monarchinitiative.org/disease/MONDO:0008774", 
                    "resource": "MONDO", 
                    "description": "", 
                    "name": "AMOXAD", 
                    "id": "MONDO:0008774"
                }, 
                {
                    "url": "https://www.omim.org/entry/204750", 
                    "resource": "MIM", 
                    "description": "2-aminoadipic 2-oxoadipic aciduria", 
                    "name": "2-aminoadipic 2-oxoadipic aciduria", 
                    "id": "MIM:204750"
                }
            ], 
            "recommended_name": {
                "url": "http://disease-ontology.org/term/DOID:0111453", 
                "resource": "Disease Ontology", 
                "description": "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has _material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14.", 
                "name": "2-aminoadipic 2-oxoadipic aciduria", 
                "id": "DOID:0111453"
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0111453#disease-associations", 
                    "id": "0111453", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "disease_id": "DOID:9252", 
            "synonyms": [
                {
                    "url": "http://disease-ontology.org/term/DOID:9252", 
                    "resource": "Disease Ontology", 
                    "description": "", 
                    "name": "inborn errors of amino acid metabolism", 
                    "id": "DOID:9252"
                }
            ], 
            "recommended_name": {
                "url": "http://disease-ontology.org/term/DOID:9252", 
                "resource": "Disease Ontology", 
                "description": "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.", 
                "name": "amino acid metabolic disorder", 
                "id": "DOID:9252"
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/9252#disease-associations", 
                    "id": "9252", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }
    ], 
    "phosphorylation": [], 
    "mass": {
        "monoisotopic_mass": 102793.0, 
        "chemical_mass": 102793.0
    }, 
    "expression_tissue": [], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0", 
            "name": "Dhtkd1", 
            "locus": {
                "end_pos": 5896115, 
                "strand": "-", 
                "start_pos": 5942792, 
                "chromosome": "2", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSMUSG00000025815", 
                        "id": "ENSMUSG00000025815", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ], 
    "protein_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "1.2.4.2"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "Dehydrogenase E1 and transketolase domain-containing protein 1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A2ATU0#names_and_taxonomy", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "dehydrogenase E1 and transketolase domain-containing protein 1"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A2ATU0", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial"
        }
    ]
}