{
  "url": "https://dantelabs.com/ko/genes/a4galt",
  "gene": {
    "slug": "a4galt",
    "symbol": "A4GALT",
    "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
    "hgnc": "HGNC:18149",
    "summary": null,
    "location": "22q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "A14GALT",
      "Gb3S",
      "P(k)"
    ],
    "previousSymbols": [
      "P1"
    ],
    "ensemblId": "ENSG00000128274",
    "entrezId": 53947,
    "omim": [
      "607922"
    ],
    "uniprot": [
      "Q9NPC4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 42692121,
      "end": 42720870,
      "strand": "-",
      "ensemblTranscript": "ENST00000642412.2",
      "refseqTranscript": "NM_017436.7",
      "ensemblProtein": "ENSP00000494127.1",
      "refseqProtein": "NP_059132.1",
      "exons": [
        {
          "start": 42692121,
          "end": 42693997
        },
        {
          "start": 42695491,
          "end": 42695631
        },
        {
          "start": 42720797,
          "end": 42720870
        }
      ],
      "cds": {
        "start": 42692890,
        "end": 42693951
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 43088127,
      "end": 43117304,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42206496,
      "end": 43206495,
      "genes": [
        {
          "symbol": "TCF20",
          "ensemblId": "ENSG00000100207",
          "biotype": "protein_coding",
          "start": 42160013,
          "end": 42343616,
          "strand": "-",
          "slug": "tcf20"
        },
        {
          "symbol": "NFAM1",
          "ensemblId": "ENSG00000235568",
          "biotype": "protein_coding",
          "start": 42380407,
          "end": 42432425,
          "strand": "-",
          "slug": "nfam1"
        },
        {
          "symbol": "RRP7A",
          "ensemblId": "ENSG00000189306",
          "biotype": "protein_coding",
          "start": 42507982,
          "end": 42519853,
          "strand": "-",
          "slug": "rrp7a"
        },
        {
          "symbol": "SERHL2",
          "ensemblId": "ENSG00000183569",
          "biotype": "protein_coding",
          "start": 42553617,
          "end": 42574387,
          "strand": "+",
          "slug": "serhl2"
        },
        {
          "symbol": "POLDIP3",
          "ensemblId": "ENSG00000100227",
          "biotype": "protein_coding",
          "start": 42582750,
          "end": 42614962,
          "strand": "-",
          "slug": "poldip3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289517",
          "biotype": "protein_coding",
          "start": 42583836,
          "end": 42627688,
          "strand": "-"
        },
        {
          "symbol": "RNU12",
          "ensemblId": "ENSG00000276027",
          "biotype": "other",
          "start": 42615244,
          "end": 42615393,
          "strand": "+",
          "slug": "rnu12"
        },
        {
          "symbol": "CYB5R3",
          "ensemblId": "ENSG00000100243",
          "biotype": "protein_coding",
          "start": 42615730,
          "end": 42720870,
          "strand": "-",
          "slug": "cyb5r3"
        },
        {
          "symbol": "ATP5MGL",
          "ensemblId": "ENSG00000249222",
          "biotype": "protein_coding",
          "start": 42639803,
          "end": 42640601,
          "strand": "-",
          "slug": "atp5mgl"
        },
        {
          "symbol": "ARFGAP3",
          "ensemblId": "ENSG00000242247",
          "biotype": "protein_coding",
          "start": 42796502,
          "end": 42858106,
          "strand": "-",
          "slug": "arfgap3"
        },
        {
          "symbol": "PACSIN2",
          "ensemblId": "ENSG00000100266",
          "biotype": "protein_coding",
          "start": 42835412,
          "end": 43015185,
          "strand": "-",
          "slug": "pacsin2"
        },
        {
          "symbol": "TTLL1",
          "ensemblId": "ENSG00000100271",
          "biotype": "protein_coding",
          "start": 43039447,
          "end": 43089430,
          "strand": "-",
          "slug": "ttll1"
        },
        {
          "symbol": "BIK",
          "ensemblId": "ENSG00000100290",
          "biotype": "protein_coding",
          "start": 43110742,
          "end": 43129712,
          "strand": "+",
          "slug": "bik"
        },
        {
          "symbol": "MCAT",
          "ensemblId": "ENSG00000100294",
          "biotype": "protein_coding",
          "start": 43130627,
          "end": 43143401,
          "strand": "-",
          "slug": "mcat"
        },
        {
          "symbol": "TSPO",
          "ensemblId": "ENSG00000100300",
          "biotype": "protein_coding",
          "start": 43151077,
          "end": 43163246,
          "strand": "+",
          "slug": "tspo"
        },
        {
          "symbol": "TTLL12",
          "ensemblId": "ENSG00000100304",
          "biotype": "protein_coding",
          "start": 43164366,
          "end": 43187160,
          "strand": "-",
          "slug": "ttll12"
        },
        {
          "symbol": "SCUBE1",
          "ensemblId": "ENSG00000159307",
          "biotype": "protein_coding",
          "start": 43197280,
          "end": 43343379,
          "strand": "-",
          "slug": "scube1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "선천性 당화 장애",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "선천성 당화 장애(CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "당사슬(당질)이 단백질과 지질에 올바르게 만들어지거나 결합되지 않아 발생하는 유전성 질환의 큰 집단으로, 주로 뇌, 간, 혈액 응고, 성장 및 기타 여러 신체 계통에 영향을 줍니다. 대부분은 상염색체 열성 유전이지만, 일부는 X 연관 또는 상염색체 우성 유전입니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "blood-group-antigen-abnormality",
        "name": "Blood group antigen abnormality",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/blood-group-antigen-abnormality"
      }
    ],
    "related": [
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp6ap1"
      },
      {
        "slug": "atp6ap2",
        "symbol": "ATP6AP2",
        "name": "ATPase H+ transporting accessory protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp6ap2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}