{
  "url": "https://dantelabs.com/tr/genes/galnt3",
  "gene": {
    "slug": "galnt3",
    "symbol": "GALNT3",
    "name": "polypeptide N-acetylgalactosaminyltransferase 3",
    "hgnc": "HGNC:4125",
    "summary": null,
    "location": "2q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GalNAc-T3",
      "HHS",
      "HFTC"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115339",
    "entrezId": 2591,
    "omim": [
      "601756"
    ],
    "uniprot": [
      "Q14435"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 165747588,
      "end": 165794247,
      "strand": "-",
      "ensemblTranscript": "ENST00000392701.8",
      "refseqTranscript": "NM_004482.4",
      "ensemblProtein": "ENSP00000376465.3",
      "refseqProtein": "NP_004473.2",
      "exons": [
        {
          "start": 165747588,
          "end": 165748903
        },
        {
          "start": 165749742,
          "end": 165749894
        },
        {
          "start": 165754627,
          "end": 165754728
        },
        {
          "start": 165754932,
          "end": 165755063
        },
        {
          "start": 165757047,
          "end": 165757247
        },
        {
          "start": 165758747,
          "end": 165758864
        },
        {
          "start": 165759336,
          "end": 165759570
        },
        {
          "start": 165761905,
          "end": 165762054
        },
        {
          "start": 165764884,
          "end": 165765056
        },
        {
          "start": 165770186,
          "end": 165770808
        },
        {
          "start": 165794015,
          "end": 165794247
        }
      ],
      "cds": {
        "start": 165748781,
        "end": 165770700
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 166604101,
      "end": 166651192,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 165270918,
      "end": 166270917,
      "genes": [
        {
          "symbol": "SCN2A",
          "ensemblId": "ENSG00000136531",
          "biotype": "protein_coding",
          "start": 165194993,
          "end": 165392310,
          "strand": "+",
          "slug": "scn2a"
        },
        {
          "symbol": "CSRNP3",
          "ensemblId": "ENSG00000178662",
          "biotype": "protein_coding",
          "start": 165469647,
          "end": 165689407,
          "strand": "+",
          "slug": "csrnp3"
        },
        {
          "symbol": "TTC21B",
          "ensemblId": "ENSG00000123607",
          "biotype": "protein_coding",
          "start": 165857475,
          "end": 165953851,
          "strand": "-",
          "slug": "ttc21b"
        },
        {
          "symbol": "SCN1A",
          "ensemblId": "ENSG00000144285",
          "biotype": "protein_coding",
          "start": 165984641,
          "end": 166182806,
          "strand": "-",
          "slug": "scn1a"
        },
        {
          "symbol": "SCN9A",
          "ensemblId": "ENSG00000169432",
          "biotype": "protein_coding",
          "start": 166195185,
          "end": 166376001,
          "strand": "-",
          "slug": "scn9a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hyperphosphataemic-familial-tumoral-calcinosis-galnt3",
        "name": "Hiperfosfatemik Ailesel Tümöral Kalsinoz (GALNT3)",
        "diseases": [
          {
            "mondoId": "MONDO:0100252",
            "name": "Hiperfosfatemik Ailesel Tümöral Kalsinoz 1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "GALNT3 geninin her iki kopyasındaki değişikliklerden kaynaklanır. GALNT3, FGF23 hormonunun parçalanmasını önler; bu gen olmadığında yeterli aktif FGF23 üretilmez ve böbrekler çok fazla fosfatı geri emer.",
            "management": "Tedavi, düşük fosfatlı diyet ve fosfat bağlayıcılarla fosfat düzeyinin düşürülmesini amaçlar; bazen asetazolamid gibi başka ilaçlar da kullanılır. Büyük birikintiler cerrahi olarak çıkarılabilir. Genetik danışmanlık önerilir ve yakın akrabalar için taşıyıcı testi mevcuttur.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hyperphosphataemic-familial-tumoral-calcinosis-galnt3"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "angioid-streaks",
        "name": "Angioid streaks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/angioid-streaks"
      },
      {
        "slug": "hyperostosis",
        "name": "Bone overgrowth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperostosis"
      },
      {
        "slug": "calcinosis",
        "name": "Calcium buildup in soft tissues of body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/calcinosis"
      },
      {
        "slug": "conjunctival-whitish-salt-like-deposits",
        "name": "Conjunctival whitish salt-like deposits",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/conjunctival-whitish-salt-like-deposits"
      },
      {
        "slug": "decreased-renal-tubular-phosphate-excretion",
        "name": "Decreased renal tubular phosphate excretion",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-renal-tubular-phosphate-excretion"
      },
      {
        "slug": "elevated-circulating-calcitriol-concentration",
        "name": "Elevated circulating calcitriol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-calcitriol-concentration"
      },
      {
        "slug": "hyperphosphatemia",
        "name": "High blood phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperphosphatemia"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-renal-tubular-phosphate-reabsorption",
        "name": "Increased renal tubular phosphate reabsorption",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-renal-tubular-phosphate-reabsorption"
      },
      {
        "slug": "pulp-calcification",
        "name": "Pulp stones",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/pulp-calcification"
      },
      {
        "slug": "subperiosteal-bone-formation",
        "name": "Subperiosteal bone formation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/subperiosteal-bone-formation"
      },
      {
        "slug": "taurodontia",
        "name": "Taurodontia",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/taurodontia"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "vascular-calcification",
        "name": "Vascular calcification",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-calcification"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}