{
    "title": "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.",
    "journal": "Proceedings of the National Academy of Sciences of the United States of America",
    "date": "1999",
    "authors": "Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T",
    "reference": {
        "type": "PubMed",
        "id": "10359825",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10359825"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "Q9BT22-1",
            "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase",
            "gene_name": "ALG1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9H553-1",
            "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2",
            "gene_name": "ALG2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9NP73-1",
            "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13",
            "gene_name": "ALG13",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9BV10-1",
            "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase",
            "gene_name": "ALG12",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O95848-1",
            "protein_name": "Uridine diphosphate glucose pyrophosphatase NUDT14",
            "gene_name": "NUDT14",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q96AA3-1",
            "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
            "gene_name": "RFT1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O75352-1",
            "protein_name": "Mannose-P-dolichol utilization defect 1 protein",
            "gene_name": "MPDU1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q92685-1",
            "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase",
            "gene_name": "ALG3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q2TAA5-1",
            "protein_name": "GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase",
            "gene_name": "ALG11",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9H3H5-1",
            "protein_name": "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase",
            "gene_name": "DPAGT1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9Y672-1",
            "protein_name": "Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase",
            "gene_name": "ALG6",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q96F25-1",
            "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14",
            "gene_name": "ALG14",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9Y673-1",
            "protein_name": "Dolichyl-phosphate beta-glucosyltransferase",
            "gene_name": "ALG5",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9H6U8-1",
            "protein_name": "Alpha-1,2-mannosyltransferase ALG9",
            "gene_name": "ALG9",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q5I7T1-1",
            "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase",
            "gene_name": "ALG10B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9BVK2-1",
            "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase",
            "gene_name": "ALG8",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q5BKT4-1",
            "protein_name": "Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase",
            "gene_name": "ALG10",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q9BT22",
                    "url": "https://www.uniprot.org/uniprot/Q9BT22"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10359825",
    "abstract": "",
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