{ "disease_id": "DOID:0050730", "recommended_name": { "id": "DOID:0050730", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050730", "name": "coenzyme Q10 deficiency disease", "description": "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis." }, "synonyms": [ { "id": "DOID:0050730", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050730", "name": "COENZYME Q10 DEFICIENCY, PRIMARY", "description": "" }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "coenzyme Q10 deficiency, primary, 1", "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "COQ2 coenzyme Q10 deficiency", "description": "" }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "coenzyme Q10 deficiency caused by mutation in COQ2", "description": "" }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "coenzyme Q10 deficiency, primary, 1", "description": "" }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "coenzyme Q10 deficiency, primary, type 1", "description": "" }, { "id": "MONDO:0011829", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "name": "COQ10D1", "description": "" }, { "id": "MIM:607426", "resource": "MIM", "url": "https://www.omim.org/entry/607426", "name": "Coenzyme Q10 deficiency, primary, 1", "description": "Coenzyme Q10 deficiency, primary, 1" } ], "children": [ { "id": "DOID:0070238", "label": "primary coenzyme Q10 deficiency 1", "link_status": true, "children": [] }, { "id": "DOID:0070239", "label": "primary coenzyme Q10 deficiency 2", "link_status": true, "children": [] }, { "id": "DOID:0070240", "label": "primary coenzyme Q10 deficiency 3", "link_status": true, "children": [] }, { "id": "DOID:0070241", "label": "primary coenzyme Q10 deficiency 4", "link_status": true, "children": [] }, { "id": "DOID:0070242", "label": "primary coenzyme Q10 deficiency 5", "link_status": true, "children": [] }, { "id": "DOID:0070243", "label": "primary coenzyme Q10 deficiency 6", "link_status": true, "children": [] }, { "id": "DOID:0070244", "label": "primary coenzyme Q10 deficiency 7", "link_status": true, "children": [] }, { "id": "DOID:0070245", "label": "primary coenzyme Q10 deficiency 8", "link_status": true, "children": [] }, { "id": "DOID:0112138", "label": "primary coenzyme Q10 deficiency 9", "link_status": true, "children": [] } ], "id_list": [ "DOID:0050730", "DOID:0112138", "DOID:0070240", "DOID:0070242", "DOID:0070239", "DOID:0070244", "DOID:0070243", "DOID:0070241", "DOID:0070245", "DOID:0070238" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050730", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050730", "categories": [] }, { "id": "MONDO:0011829", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011829", "categories": [] }, { "id": "MIM:607426", "database": "MIM", "url": "https://www.omim.org/entry/607426", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q5RGU1-1", "uniprot_ac": "Q5RGU1", "uniprot_id": "COQ8A_DANRE", "refseq_ac": "NP_001002728", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Atypical kinase COQ8A, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "Chaperone activity of bc1 complex-like", "type": "synonym" }, { "name": "Chaperone-ABC1-like", "type": "synonym" }, { "name": "Coenzyme Q protein 8A", "type": "synonym" }, { "name": "aarF domain containing kinase 3", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 3", "type": "synonym" }, { "name": "atypical kinase ADCK3, mitochondrial", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial", "type": "synonym" }, { "name": "chaperone activity of bc1 complex-like, mitochondrial", "type": "synonym" }, { "name": "coenzyme Q protein 8A", "type": "synonym" } ], "gene_names": [ { "name": "coq8a", "type": "recommended" }, { "name": "adck3", "type": "synonym" }, { "name": "cabc1", "type": "synonym" }, { "name": "coq8aa", "type": "synonym" }, { "name": "coq8a", "type": "synonym" }, { "name": "zgc:92578", "type": "synonym" } ], "record_id": "Q5RGU1-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "A3QJU3-1", "uniprot_ac": "A3QJU3", "uniprot_id": "COQ8B_DANRE", "refseq_ac": "NP_001410931", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Atypical kinase COQ8B, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "AarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "Coenzyme Q protein 8B", "type": "synonym" }, { "name": "aarF domain containing kinase 4", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "atypical kinase COQ8B, mitochondrial", "type": "synonym" }, { "name": "coenzyme Q protein 8B", "type": "synonym" } ], "gene_names": [ { "name": "coq8b", "type": "recommended" }, { "name": "adck4", "type": "synonym" }, { "name": "coq8b", "type": "synonym" }, { "name": "si:dkey-114g7.2", "type": "synonym" } ], "record_id": "A3QJU3-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "E7F0M3-1", "uniprot_ac": "E7F0M3", "uniprot_id": "E7F0M3_DANRE", "refseq_ac": "XP_021328728", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Atypical kinase COQ8A, mitochondrial", "type": "recommended" }, { "name": "Chaperone activity of bc1 complex-like", "type": "synonym" }, { "name": "Coenzyme Q protein 8A", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 3", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial-like isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "coq8ab", "type": "recommended" }, { "name": "coq8ab", "type": "synonym" } ], "record_id": "E7F0M3-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "A9JR86-1", "uniprot_ac": "A9JR86", "uniprot_id": "COQ4_DANRE", "refseq_ac": "NP_001108192", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "coq4", "type": "recommended" }, { "name": "COQ4", "type": "synonym" }, { "name": "coq4", "type": "synonym" }, { "name": "si:dkey-170o10.3", "type": "synonym" } ], "record_id": "A9JR86-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q66L51-1", "uniprot_ac": "Q66L51", "uniprot_id": "COQ5_DANRE", "refseq_ac": "NP_001004541", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor", "type": "synonym" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "synonym" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "DKEYP-7C9.2", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" }, { "name": "coenzyme Q5 homolog, methyltransferase", "type": "synonym" }, { "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "coq5", "type": "recommended" }, { "name": "coq5", "type": "synonym" }, { "name": "zgc:92445", "type": "synonym" } ], "record_id": "Q66L51-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q8K1Z0-1", "uniprot_ac": "Q8K1Z0", "uniprot_id": "COQ9_MOUSE", "refseq_ac": "NP_080728", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "2310005O14Rik", "type": "synonym" }, { "name": "Coq9", "type": "synonym" } ], "record_id": "Q8K1Z0-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q33DR3-1", "uniprot_ac": "Q33DR3", "uniprot_id": "DLP1_MOUSE", "refseq_ac": "NP_001161761", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "All trans-polyprenyl-diphosphate synthase PDSS2", "type": "recommended" }, { "name": "2.5.1.91", "type": "synonym" }, { "name": "All-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Solanesyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "all trans-polyprenyl-diphosphate synthase PDSS2 isoform 2", "type": "synonym" }, { "name": "all trans-polyprenyl-diphosphate synthase PDSS2", "type": "synonym" }, { "name": "all-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthetase subunit 2", "type": "synonym" }, { "name": "decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "prenyltransferase-like mitochondrial protein", "type": "synonym" }, { "name": "solanesyl-diphosphate synthase subunit 2", "type": "synonym" } ], "gene_names": [ { "name": "Pdss2", "type": "recommended" }, { "name": "5430420P03Rik", "type": "synonym" }, { "name": "Dlp1", "type": "synonym" }, { "name": "Gm60", "type": "synonym" }, { "name": "Pdss2", "type": "synonym" }, { "name": "Plmp", "type": "synonym" }, { "name": "kd", "type": "synonym" }, { "name": "mDLP1", "type": "synonym" } ], "record_id": "Q33DR3-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q566J8-1", "uniprot_ac": "Q566J8", "uniprot_id": "COQ8B_MOUSE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Atypical kinase COQ8B, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "AarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "Coenzyme Q protein 8B", "type": "synonym" } ], "gene_names": [ { "name": "Coq8b", "type": "recommended" }, { "name": "Adck4", "type": "synonym" } ], "record_id": "Q566J8-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q60936-1", "uniprot_ac": "Q60936", "uniprot_id": "COQ8A_MOUSE", "refseq_ac": "NP_001156762", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Atypical kinase COQ8A, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "Chaperone activity of bc1 complex-like", "type": "synonym" }, { "name": "Chaperone-ABC1-like", "type": "synonym" }, { "name": "Coenzyme Q protein 8A", "type": "synonym" }, { "name": "aarF domain containing kinase 3", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 3", "type": "synonym" }, { "name": "atypical kinase ADCK3, mitochondrial", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial isoform 1", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial", "type": "synonym" }, { "name": "chaperone activity of bc1 complex-like, mitochondrial", "type": "synonym" }, { "name": "chaperone, ABC1 activity of bc1 complex like", "type": "synonym" }, { "name": "coenzyme Q protein 8A", "type": "synonym" } ], "gene_names": [ { "name": "Coq8a", "type": "recommended" }, { "name": "4632432J16Rik", "type": "synonym" }, { "name": "Adck3", "type": "synonym" }, { "name": "Cabc1", "type": "synonym" }, { "name": "Coq8a", "type": "synonym" }, { "name": "mKIAA0451", "type": "synonym" } ], "record_id": "Q60936-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q8BGB8-1", "uniprot_ac": "Q8BGB8", "uniprot_id": "COQ4_MOUSE", "refseq_ac": "NP_848808", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq4", "type": "recommended" }, { "name": "Coq4", "type": "synonym" }, { "name": "D2Ertd97e", "type": "synonym" } ], "record_id": "Q8BGB8-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9CXI0-1", "uniprot_ac": "Q9CXI0", "uniprot_id": "COQ5_MOUSE", "refseq_ac": "NP_080780", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor", "type": "synonym" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "synonym" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" }, { "name": "coenzyme Q5 homolog, methyltransferase", "type": "synonym" }, { "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq5", "type": "recommended" }, { "name": "1810014G04Rik", "type": "synonym" }, { "name": "Coq5", "type": "synonym" }, { "name": "D5Ertd33e", "type": "synonym" } ], "record_id": "Q9CXI0-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q66JT7-1", "uniprot_ac": "Q66JT7", 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"name": "Coq2", "type": "recommended" }, { "name": "2310002F18Rik", "type": "synonym" }, { "name": "Coq2", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" } ], "record_id": "Q66JT7-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q96H96-1", "uniprot_ac": "Q96H96", "uniprot_id": "COQ2_HUMAN", "refseq_ac": "NP_056512", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "recommended" }, { "name": "2.5.1.39", "type": "synonym" }, { "name": "4-HB polyprenyltransferase", "type": "synonym" }, { "name": "4-hydroxybenzoate decaprenyltransferase", "type": "synonym" }, { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial isoform 1", "type": "synonym" }, { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "synonym" }, { "name": "COQ2 homolog", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" }, { "name": "PHB:polyprenyltransferase", "type": "synonym" }, { "name": "Para-hydroxybenzoate--polyprenyltransferase", "type": "synonym" }, { "name": "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase", "type": "synonym" }, { "name": "coenzyme Q2 homolog, prenyltransferase", "type": "synonym" }, { "name": "hCOQ2", "type": "synonym" }, { "name": "para-hydroxybenzoate-polyprenyltransferase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "COQ2", "type": "recommended" }, { "name": "CL640", "type": "synonym" }, { "name": "COQ10D1", "type": "synonym" }, { "name": "COQ2", "type": "synonym" }, { "name": "MSA1", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" } ], "record_id": "Q96H96-1", "evidence": [ { "id": "607426", "database": "MIM", "url": "https://www.omim.org/entry/607426" }, { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q05779-1", "uniprot_ac": "Q05779", "uniprot_id": "COQ9_YEAST", "refseq_ac": "NP_013302", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "ubiquinone biosynthesis protein COQ9", "type": "synonym" } ], "gene_names": [ { "name": "COQ9", "type": "recommended" }, { "name": "COQ9", "type": "synonym" } ], "record_id": "Q05779-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "O13525-1", "uniprot_ac": "O13525", "uniprot_id": "COQ4_YEAST", "refseq_ac": "NP_010490", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4", "type": "synonym" } ], "gene_names": [ { "name": "COQ4", "type": "recommended" }, { "name": "COQ4", "type": "synonym" }, { "name": "YD8142.01", "type": "synonym" } ], "record_id": "O13525-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "P49017-1", "uniprot_ac": "P49017", "uniprot_id": "COQ5_YEAST", "refseq_ac": "NP_013597", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2-hexaprenyl-6-methoxy-1,4-benzoquinol methyltransferase", "type": "synonym" }, { "name": "2-hexaprenyl-6-methoxy-1,4-benzoquinone methyltransferase", "type": "synonym" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" } ], "gene_names": [ { "name": "COQ5", "type": "recommended" }, { "name": "COQ5", "type": "synonym" }, { "name": "DBI56", "type": "synonym" }, { "name": "YM8339.09C", "type": "synonym" } ], "record_id": "P49017-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "P32378-1", "uniprot_ac": "P32378", "uniprot_id": "COQ2_YEAST", "refseq_ac": "NP_014439", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "recommended" }, { "name": "2.5.1.39", "type": "synonym" }, { "name": "4-HB polyprenyltransferase", "type": "synonym" }, { "name": "4-hydroxybenzoate hexaprenyltransferase", "type": "synonym" }, { "name": "4-hydroxybenzoate octaprenyltransferase", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" }, { "name": "PHB:polyprenyltransferase", "type": "synonym" }, { "name": "Para-hydroxybenzoate--polyprenyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "COQ2", "type": "recommended" }, { "name": "COQ2", "type": "synonym" }, { "name": "N3419", "type": "synonym" } ], "record_id": "P32378-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "P27697-1", "uniprot_ac": "P27697", "uniprot_id": "COQ8_YEAST", "refseq_ac": "NP_011396", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Atypical kinase COQ8, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "Activity of bc1 complex protein 1", "type": "synonym" }, { "name": "Coenzyme Q protein 8", "type": "synonym" }, { "name": "Ubiquinone biosynthesis protein COQ8", "type": "synonym" }, { "name": "protein kinase COQ8", "type": "synonym" } ], "gene_names": [ { "name": "COQ8", "type": "recommended" }, { "name": "ABC1", "type": "synonym" }, { "name": "COQ8", "type": "synonym" } ], "record_id": "P27697-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "P18900-1", "uniprot_ac": "P18900", "uniprot_id": "COQ1_YEAST", "refseq_ac": "NP_009557", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Hexaprenyl pyrophosphate synthase, mitochondrial", "type": "recommended" }, { "name": "2.5.1.-", "type": "synonym" }, { "name": "HPS", "type": "synonym" }, { "name": "trans-hexaprenyltranstransferase", "type": "synonym" } ], "gene_names": [ { "name": "COQ1", "type": "recommended" }, { "name": "COQ1", "type": "synonym" }, { "name": "YBR0109", "type": "synonym" } ], "record_id": "P18900-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q6AY19-1", "uniprot_ac": "Q6AY19", "uniprot_id": "COQ8B_RAT", "refseq_ac": "NP_001012065", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Atypical kinase COQ8B, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "AarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "Coenzyme Q protein 8B", "type": "synonym" }, { "name": "aarF domain containing kinase 4", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "atypical kinase COQ8B, mitochondrial", "type": "synonym" }, { "name": "coenzyme Q protein 8B", "type": "synonym" } ], "gene_names": [ { "name": "Coq8b", "type": "recommended" }, { "name": "Adck4", "type": "synonym" }, { "name": "Coq8b", "type": "synonym" } ], "record_id": "Q6AY19-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q5BJQ0-1", "uniprot_ac": "Q5BJQ0", "uniprot_id": "COQ8A_RAT", "refseq_ac": "NP_001013203", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Atypical kinase COQ8A, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "Chaperone activity of bc1 complex-like", "type": "synonym" }, { "name": "Chaperone-ABC1-like", "type": "synonym" }, { "name": "Coenzyme Q protein 8A", "type": "synonym" }, { "name": "aarF domain containing kinase 3", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 3", "type": "synonym" }, { "name": "atypical kinase ADCK3, mitochondrial", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial", "type": "synonym" }, { "name": "chaperone activity of bc1 complex-like, mitochondrial", "type": "synonym" }, { "name": "chaperone, ABC1 activity of bc1 complex like", "type": "synonym" }, { "name": "coenzyme Q protein 8A", "type": "synonym" } ], "gene_names": [ { "name": "Coq8a", "type": "recommended" }, { "name": "Adck3", "type": "synonym" }, { "name": "Cabc1", "type": "synonym" }, { "name": "Coq8a", "type": "synonym" } ], "record_id": "Q5BJQ0-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q4FZU1-1", "uniprot_ac": "Q4FZU1", "uniprot_id": "COQ4_RAT", "refseq_ac": "NP_001026832", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "coenzyme Q4 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq4", "type": "recommended" }, { "name": "COQ4", "type": "synonym" }, { "name": "Coq4", "type": "synonym" } ], "record_id": "Q4FZU1-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q68FT1-1", "uniprot_ac": "Q68FT1", "uniprot_id": "COQ9_RAT", "refseq_ac": "NP_001030334", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "Coq9", "type": "synonym" } ], "record_id": "Q68FT1-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q499N4-1", "uniprot_ac": "Q499N4", "uniprot_id": "COQ2_RAT", "refseq_ac": "NP_001037720", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "recommended" }, { "name": "2.5.1.39", "type": "synonym" }, { "name": "4-HB polyprenyltransferase", "type": "synonym" }, { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial precursor", "type": "synonym" }, { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" }, { "name": "PHB:polyprenyltransferase", "type": "synonym" }, { "name": "Para-hydroxybenzoate--polyprenyltransferase", "type": "synonym" }, { "name": "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase", "type": "synonym" }, { "name": "coenzyme Q2 homolog, prenyltransferase", "type": "synonym" }, { "name": "para-hydroxybenzoate--polyprenyltransferase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq2", "type": "recommended" }, { "name": "COQ2", "type": "synonym" }, { "name": "Coq2", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" }, { "name": "RGD1306722", "type": "synonym" } ], "record_id": "Q499N4-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q4G064-1", "uniprot_ac": "Q4G064", "uniprot_id": "COQ5_RAT", "refseq_ac": "NP_001034111", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor", "type": "synonym" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "synonym" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" }, { "name": "coenzyme Q5 homolog, methyltransferase", "type": "synonym" }, { "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Coq5", "type": "recommended" }, { "name": "Coq5", "type": "synonym" }, { "name": "RGD1310857", "type": "synonym" } ], "record_id": "Q4G064-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q5U2R1-1", "uniprot_ac": "Q5U2R1", "uniprot_id": "DLP1_RAT", "refseq_ac": "NP_001014271", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "All trans-polyprenyl-diphosphate synthase PDSS2", "type": "recommended" }, { "name": "2.5.1.91", "type": "synonym" }, { "name": "All-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Solanesyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "all trans-polyprenyl-diphosphate synthase PDSS2", "type": "synonym" }, { "name": "all-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthetase subunit 2", "type": "synonym" }, { "name": "prenyl (decaprenyl) diphosphate synthase, subunit 2", "type": "synonym" }, { "name": "prenyl (solanesyl) diphosphate synthase, subunit 2", "type": "synonym" }, { "name": "solanesyl-diphosphate synthase subunit 2", "type": "synonym" } ], "gene_names": [ { "name": "Pdss2", "type": "recommended" }, { "name": "Dlp1", "type": "synonym" }, { "name": "Pdss2", "type": "synonym" } ], "record_id": "Q5U2R1-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9VVG6-1", "uniprot_ac": "Q9VVG6", "uniprot_id": "COQ4_DROME", "refseq_ac": "NP_001246815", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "CG32174-PD", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "Coq4-PD", "type": "synonym" }, { "name": "coenzyme Q4, isoform D", "type": "synonym" } ], "gene_names": [ { "name": "Coq4", "type": "recommended" }, { "name": "CG32174", "type": "synonym" }, { "name": "CG3877", "type": "synonym" }, { "name": "Coq4", "type": "synonym" }, { "name": "Dmel\\CG32174", "type": "synonym" }, { "name": "Dmel_CG32174", "type": "synonym" } ], "record_id": "Q9VVG6-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q8MKN0-1", "uniprot_ac": "Q8MKN0", "uniprot_id": "COQ9_DROME", "refseq_ac": "NP_724594", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "CG30493-PB", "type": "synonym" }, { "name": "Coq9-PB", "type": "synonym" }, { "name": "coenzyme Q9", "type": "synonym" } ], "gene_names": [ { "name": "Coq9", "type": "recommended" }, { "name": "CG1952", "type": "synonym" }, { "name": "CG30493", "type": "synonym" }, { "name": "Coq9", "type": "synonym" }, { "name": "Dmel\\CG30493", "type": "synonym" } ], "record_id": "Q8MKN0-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9VYI6-1", "uniprot_ac": "Q9VYI6", "uniprot_id": "Q9VYI6_DROME", "refseq_ac": "NP_572836", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG32649-PA", "type": "synonym" }, { "name": "Coenzyme Q8", "type": "synonym" }, { "name": "Coq8-PA", "type": "synonym" }, { "name": "coenzyme Q8", "type": "synonym" } ], "gene_names": [ { "name": "Coq8", "type": "recommended" }, { "name": "4", "type": "synonym" }, { "name": "Adck4", "type": "synonym" }, { "name": "CG32649", "type": "synonym" }, { "name": "CG4410", "type": "synonym" }, { "name": "Coq8", "type": "synonym" }, { "name": "Dmel\\CG32649", "type": "synonym" }, { "name": "Dmel_CG32649", "type": "synonym" }, { "name": "dADCK3/4", "type": "synonym" }, { "name": "dcoq8", "type": "synonym" } ], "record_id": "Q9VYI6-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9VYF8-1", "uniprot_ac": "Q9VYF8", "uniprot_id": "COQ5_DROME", "refseq_ac": "NP_001285193", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "CG2453-PB", "type": "synonym" }, { "name": "Coq5-PB", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" }, { "name": "coenzyme Q5, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Coq5", "type": "recommended" }, { "name": "CG2453", "type": "synonym" }, { "name": "Coq5", "type": "synonym" }, { "name": "Dmel\\CG2453", "type": "synonym" }, { "name": "Dmel_CG2453", "type": "synonym" } ], "record_id": "Q9VYF8-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9VHS7-1", "uniprot_ac": "Q9VHS7", "uniprot_id": "COQ2_DROME", "refseq_ac": "NP_649789", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "type": "recommended" }, { "name": "2.5.1.39", "type": "synonym" }, { "name": "4-HB polyprenyltransferase", "type": "synonym" }, { "name": "CG9613-PA", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 2", "type": "synonym" }, { "name": "Coq2-PA", "type": "synonym" }, { "name": "PHB:PPT", "type": "synonym" }, { "name": "PHB:polyprenyltransferase", "type": "synonym" }, { "name": "Para-hydroxybenzoate--polyprenyltransferase", "type": "synonym" }, { "name": "coenzyme Q biosynthesis protein 2", "type": "synonym" }, { "name": "small boy", "type": "synonym" } ], "gene_names": [ { "name": "Coq2", "type": "recommended" }, { "name": "CG9613", "type": "synonym" }, { "name": "COQ2", "type": "synonym" }, { "name": "Coq2", "type": "synonym" }, { "name": "Dmel\\CG9613", "type": "synonym" }, { "name": "coq2", "type": "synonym" }, { "name": "sbo", "type": "synonym" } ], "record_id": "Q9VHS7-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9VP87-1", "uniprot_ac": "Q9VP87", "uniprot_id": "Q9VP87_DROME", "refseq_ac": "NP_001287138", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10585-PB", "type": "synonym" }, { "name": "COQ1 subunit 2", "type": "synonym" }, { "name": "Decaprenyl diphosphate synthase subunit 2, isoform A", "type": "synonym" }, { "name": "Decaprenyl diphosphate synthase subunit 2, isoform B", "type": "synonym" }, { "name": "Pdss2-PB", "type": "synonym" }, { "name": "decaprenyl diphosphate synthase subunit 2, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Pdss2", "type": "recommended" }, { "name": "CG10585", "type": "synonym" }, { "name": "Dmel\\CG10585", "type": "synonym" }, { "name": "Dmel_CG10585", "type": "synonym" }, { "name": "Pdss2", "type": "synonym" } ], "record_id": "Q9VP87-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q96D53-1", "uniprot_ac": "Q96D53", "uniprot_id": "COQ8B_HUMAN", "refseq_ac": "NP_001136027", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Atypical kinase COQ8B, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "AarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "Coenzyme Q protein 8B", "type": "synonym" }, { "name": "aarF domain containing kinase 4", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 4", "type": "synonym" }, { "name": "atypical kinase COQ8B, mitochondrial isoform b", "type": "synonym" }, { "name": "atypical kinase COQ8B, mitochondrial", "type": "synonym" }, { "name": "coenzyme Q protein 8B", "type": "synonym" } ], "gene_names": [ { "name": "COQ8B", "type": "recommended" }, { "name": "ADCK4", "type": "synonym" }, { "name": "COQ8B", "type": "synonym" }, { "name": "NPHS9", "type": "synonym" } ], "record_id": "Q96D53-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q8NI60-1", "uniprot_ac": "Q8NI60", "uniprot_id": "COQ8A_HUMAN", "refseq_ac": "NP_064632", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Atypical kinase COQ8A, mitochondrial", "type": "recommended" }, { "name": "2.7.-.-", "type": "synonym" }, { "name": "Chaperone activity of bc1 complex-like", "type": "synonym" }, { "name": "Chaperone-ABC1-like", "type": "synonym" }, { "name": "Coenzyme Q protein 8A", "type": "synonym" }, { "name": "aarF domain-containing protein kinase 3", "type": "synonym" }, { "name": "atypical kinase ADCK3, mitochondrial", "type": "synonym" }, { "name": "atypical kinase COQ8A, mitochondrial", "type": "synonym" }, { "name": "chaperone activity of bc1 complex-like, mitochondrial", "type": "synonym" }, { "name": "chaperone, ABC1 activity of bc1 complex homolog", "type": "synonym" }, { "name": "coenzyme Q protein 8A", "type": "synonym" }, { "name": "coenzyme Q8 homolog", "type": "synonym" } ], "gene_names": [ { "name": "COQ8A", "type": "recommended" }, { "name": "ADCK3", "type": "synonym" }, { "name": "ARCA2", "type": "synonym" }, { "name": "CABC1", "type": "synonym" }, { "name": "COQ10D4", "type": "synonym" }, { "name": "COQ8A", "type": "synonym" }, { "name": "COQ8", "type": "synonym" }, { "name": "PP265", "type": "synonym" }, { "name": "SCAR9", "type": "synonym" } ], "record_id": "Q8NI60-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q9Y3A0-1", "uniprot_ac": "Q9Y3A0", "uniprot_id": "COQ4_HUMAN", "refseq_ac": "NP_057119", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "recommended" }, { "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase", "type": "synonym" }, { "name": "4.1.1.130", "type": "synonym" }, { "name": "Coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "coenzyme Q biosynthesis protein 4 homolog", "type": "synonym" }, { "name": "coenzyme Q4 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "COQ4", "type": "recommended" }, { "name": "CGI-92", "type": "synonym" }, { "name": "COQ10D7", "type": "synonym" }, { "name": "COQ4", "type": "synonym" }, { "name": "SPAX10", "type": "synonym" } ], "record_id": "Q9Y3A0-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "O75208-1", "uniprot_ac": "O75208", "uniprot_id": "COQ9_HUMAN", "refseq_ac": "NP_064708", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "recommended" }, { "name": "coenzyme Q9 homolog", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial precursor", "type": "synonym" }, { "name": "ubiquinone biosynthesis protein COQ9, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "COQ9", "type": "recommended" }, { "name": "C16orf49", "type": "synonym" }, { "name": "COQ10D5", "type": "synonym" }, { "name": "COQ9", "type": "synonym" }, { "name": "HSPC326", "type": "synonym" }, { "name": "PSEC0129", "type": "synonym" } ], "record_id": "O75208-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q5HYK3-1", "uniprot_ac": "Q5HYK3", "uniprot_id": "COQ5_HUMAN", "refseq_ac": "NP_115690", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "recommended" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor", "type": "synonym" }, { "name": "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial", "type": "synonym" }, { "name": "2.1.1.201", "type": "synonym" }, { "name": "Ubiquinone biosynthesis methyltransferase COQ5", "type": "synonym" }, { "name": "coenzyme Q5 homolog, methyltransferase", "type": "synonym" }, { "name": "ubiquinone biosynthesis methyltransferase COQ5, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "COQ5", "type": "recommended" }, { "name": "COQ10D9", "type": "synonym" }, { "name": "COQ5", "type": "synonym" } ], "record_id": "Q5HYK3-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] }, { "uniprot_canonical_ac": "Q86YH6-1", "uniprot_ac": "Q86YH6", "uniprot_id": "DLP1_HUMAN", "refseq_ac": "NP_065114", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "All trans-polyprenyl-diphosphate synthase PDSS2", "type": "recommended" }, { "name": "2.5.1.91", "type": "synonym" }, { "name": "All-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Candidate tumor suppressor protein", "type": "synonym" }, { "name": "Decaprenyl pyrophosphate synthase subunit 2", "type": "synonym" }, { "name": "Decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "Solanesyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "all trans-polyprenyl-diphosphate synthase PDSS2", "type": "synonym" }, { "name": "all-trans-decaprenyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthase subunit 2", "type": "synonym" }, { "name": "decaprenyl pyrophosphate synthetase subunit 2", "type": "synonym" }, { "name": "prenyl (decaprenyl) diphosphate synthase, subunit 2", "type": "synonym" }, { "name": "solanesyl-diphosphate synthase subunit 2", "type": "synonym" }, { "name": "subunit 2 of decaprenyl diphosphate synthase", "type": "synonym" } ], "gene_names": [ { "name": "PDSS2", "type": "recommended" }, { "name": "C6orf210", "type": "synonym" }, { "name": "COQ10D3", "type": "synonym" }, { "name": "COQ1B", "type": "synonym" }, { "name": "DLP1", "type": "synonym" }, { "name": "PDSS2", "type": "synonym" }, { "name": "bA59I9.3", "type": "synonym" }, { "name": "hDLP1", "type": "synonym" } ], "record_id": "Q86YH6-1", "evidence": [ { "id": "0050730", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050730" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050730" }