{
    "title": "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.",
    "journal": "Nature genetics",
    "date": "1999",
    "authors": "Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T",
    "reference": {
        "type": "PubMed",
        "id": "10369257",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10369257"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "P00505-1",
            "protein_name": "Aspartate aminotransferase, mitochondrial",
            "gene_name": "GOT2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P08243-1",
            "protein_name": "Asparagine synthetase [glutamine-hydrolyzing]",
            "gene_name": "ASNS",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9Y3Q0-1",
            "protein_name": "N-acetylated-alpha-linked acidic dipeptidase 2",
            "gene_name": "NAALAD2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q8N9F0-1",
            "protein_name": "N-acetylaspartate synthetase",
            "gene_name": "NAT8L",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P17174-1",
            "protein_name": "Aspartate aminotransferase, cytoplasmic",
            "gene_name": "GOT1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q6ZQY3-1",
            "protein_name": "Acidic amino acid decarboxylase GADL1",
            "gene_name": "GADL1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9HBA9-1",
            "protein_name": "Putative N-acetylated-alpha-linked acidic dipeptidase",
            "gene_name": "FOLH1B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P45381-1",
            "protein_name": "Aspartoacylase",
            "gene_name": "ASPA",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O75746-1",
            "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial",
            "gene_name": "SLC25A12",
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        },
        {
            "uniprot_canonical_ac": "Q9UJS0-1",
            "protein_name": "Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",
            "gene_name": "SLC25A13",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q86U10-1",
            "protein_name": "60 kDa lysophospholipase",
            "gene_name": "ASPG",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q04609-1",
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            "gene_name": "FOLH1",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P00505",
                    "url": "https://www.uniprot.org/uniprot/P00505"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10369257",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
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    "phosphorylation": [],
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