{
    "title": "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.",
    "journal": "Human molecular genetics",
    "date": "1999",
    "authors": "Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM",
    "reference": {
        "type": "PubMed",
        "id": "10072434",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10072434"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "Q92681-1",
            "protein_name": "Regulatory solute carrier protein family 1 member 1",
            "gene_name": "RSC1A1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O15245-1",
            "protein_name": "Solute carrier family 22 member 1",
            "gene_name": "SLC22A1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q86VW1-1",
            "protein_name": "Solute carrier family 22 member 16",
            "gene_name": "SLC22A16",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q8IZD6-1",
            "protein_name": "Solute carrier family 22 member 15",
            "gene_name": "SLC22A15",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O75751-1",
            "protein_name": "Solute carrier family 22 member 3",
            "gene_name": "SLC22A3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q96BI1-1",
            "protein_name": "Solute carrier family 22 member 18",
            "gene_name": "SLC22A18",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q01196-1",
            "protein_name": "Runt-related transcription factor 1",
            "gene_name": "RUNX1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O76082-1",
            "protein_name": "Organic cation/carnitine transporter 2",
            "gene_name": "SLC22A5",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O15244-1",
            "protein_name": "Solute carrier family 22 member 2",
            "gene_name": "SLC22A2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9H015-1",
            "protein_name": "Solute carrier family 22 member 4",
            "gene_name": "SLC22A4",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q92681",
                    "url": "https://www.uniprot.org/uniprot/Q92681"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10072434",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
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        {
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                    "field": "n_linked_glycan_sites",
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