{
    "title": "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.",
    "journal": "Nature genetics",
    "date": "1999",
    "authors": "Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D",
    "reference": {
        "type": "PubMed",
        "id": "10369256",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10369256"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "P31327-1",
            "protein_name": "Carbamoyl-phosphate synthase [ammonia], mitochondrial",
            "gene_name": "CPS1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9HBL8-1",
            "protein_name": "NmrA-like family domain-containing protein 1",
            "gene_name": "NMRAL1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P04424-1",
            "protein_name": "Argininosuccinate lyase",
            "gene_name": "ASL",
            "tax_name": "Human"
        },
        {
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            "protein_name": "Mitochondrial ornithine transporter 1",
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        },
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            "tax_name": "Human"
        },
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            "tax_name": "Human"
        },
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            "uniprot_canonical_ac": "P78540-1",
            "protein_name": "Arginase-2, mitochondrial",
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        },
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        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P31327",
                    "url": "https://www.uniprot.org/uniprot/P31327"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10369256",
    "abstract": "",
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