{
  "url": "https://dantelabs.com/fi/genes/slc17a5",
  "gene": {
    "slug": "slc17a5",
    "symbol": "SLC17A5",
    "name": "solute carrier family 17 member 5",
    "hgnc": "HGNC:10933",
    "summary": null,
    "location": "6q13",
    "locusType": "gene with protein product",
    "aliases": [
      "AST",
      "SD",
      "ISSD",
      "NSD",
      "SIALIN",
      "SLD"
    ],
    "previousSymbols": [
      "SIASD"
    ],
    "ensemblId": "ENSG00000119899",
    "entrezId": 26503,
    "omim": [
      "604322"
    ],
    "uniprot": [
      "Q9NRA2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 73593379,
      "end": 73653992,
      "strand": "-",
      "ensemblTranscript": "ENST00000355773.6",
      "refseqTranscript": "NM_012434.5",
      "ensemblProtein": "ENSP00000348019.5",
      "refseqProtein": "NP_036566.1",
      "exons": [
        {
          "start": 73593379,
          "end": 73595214
        },
        {
          "start": 73600351,
          "end": 73600441
        },
        {
          "start": 73610400,
          "end": 73610547
        },
        {
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        },
        {
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        },
        {
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          "end": 73635500
        },
        {
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          "end": 73636707
        },
        {
          "start": 73638412,
          "end": 73638499
        },
        {
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          "end": 73641924
        },
        {
          "start": 73644407,
          "end": 73644603
        },
        {
          "start": 73653793,
          "end": 73653992
        }
      ],
      "cds": {
        "start": 73595077,
        "end": 73653886
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 74303102,
      "end": 74363878,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73123686,
      "end": 74123685,
      "genes": [
        {
          "symbol": "KCNQ5",
          "ensemblId": "ENSG00000185760",
          "biotype": "protein_coding",
          "start": 72621623,
          "end": 73198853,
          "strand": "+",
          "slug": "kcnq5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000243501",
          "biotype": "protein_coding",
          "start": 73209746,
          "end": 73263196,
          "strand": "-"
        },
        {
          "symbol": "KHDC1L",
          "ensemblId": "ENSG00000256980",
          "biotype": "protein_coding",
          "start": 73223544,
          "end": 73225770,
          "strand": "-",
          "slug": "khdc1l"
        },
        {
          "symbol": "KHDC1",
          "ensemblId": "ENSG00000135314",
          "biotype": "protein_coding",
          "start": 73241310,
          "end": 73310455,
          "strand": "-",
          "slug": "khdc1"
        },
        {
          "symbol": "DPPA5",
          "ensemblId": "ENSG00000203909",
          "biotype": "protein_coding",
          "start": 73353063,
          "end": 73354294,
          "strand": "-",
          "slug": "dppa5"
        },
        {
          "symbol": "KHDC3L",
          "ensemblId": "ENSG00000203908",
          "biotype": "protein_coding",
          "start": 73362653,
          "end": 73364173,
          "strand": "+",
          "slug": "khdc3l"
        },
        {
          "symbol": "OOEP",
          "ensemblId": "ENSG00000203907",
          "biotype": "protein_coding",
          "start": 73368549,
          "end": 73395133,
          "strand": "-",
          "slug": "ooep"
        },
        {
          "symbol": "DDX43",
          "ensemblId": "ENSG00000080007",
          "biotype": "protein_coding",
          "start": 73394774,
          "end": 73417578,
          "strand": "+",
          "slug": "ddx43"
        },
        {
          "symbol": "CGAS",
          "ensemblId": "ENSG00000164430",
          "biotype": "protein_coding",
          "start": 73413515,
          "end": 73461726,
          "strand": "-",
          "slug": "cgas"
        },
        {
          "symbol": "MTO1",
          "ensemblId": "ENSG00000135297",
          "biotype": "protein_coding",
          "start": 73461578,
          "end": 73509236,
          "strand": "+",
          "slug": "mto1"
        },
        {
          "symbol": "EEF1A1",
          "ensemblId": "ENSG00000156508",
          "biotype": "protein_coding",
          "start": 73489308,
          "end": 73525587,
          "strand": "-",
          "slug": "eef1a1"
        },
        {
          "symbol": "CD109",
          "ensemblId": "ENSG00000156535",
          "biotype": "protein_coding",
          "start": 73695779,
          "end": 73828316,
          "strand": "+",
          "slug": "cd109"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "free-sialic-acid-storage-disease",
        "name": "Sallan tauti ja vapaan sialihapon varastoitumistauti",
        "diseases": [
          {
            "mondoId": "MONDO:0011449",
            "name": "Sallan tauti",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Lihasten matala sävy, kehityksen viivästymä, ataksia ja kehitysvammaisuus, jotka alkavat imeväisiässä ja etenevät hitaasti. Tauti on yleisempi Suomessa.",
            "management": "Hoito on oireenmukaista ja tukevaa, ja siihen kuuluvat esimerkiksi terapia sekä kehityksen tukeminen.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Myriad Women's Health",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0010027",
            "name": "Imeväisiän vapaan sialihapon varastoitumistauti",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Vakava tauti, joka alkaa syntymästä tai jo ennen sitä. Siihen liittyy sikiön hydrops, karkeat kasvonpiirteet, elinten suurentuminen ja varhainen kuolema.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/free-sialic-acid-storage-disease"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomaalinen varastosairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomaalinen kertymäsairaus (muut ja määrittelemättömät tyypit)",
            "genes": 59,
            "inheritance": null,
            "description": "Kattaa lysosomaaliset kertymäsairaudet, joilla ei ole omaa raporttia, kuten Farberin tauti ja muut ASAH1-geeniin liittyvät sairaudet, prosapsiini- (PSAP) -puutokset, multippeli sulfataasipuutos, mukopolysakkaridoosi tyypit IX ja X sekä Dorfman-Chanarinin tauti. Periytymistapa vaihtelee alatyypeittäin, useimmiten autosomaalisesti resessiivinen.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "j-shaped-sella-turcica",
        "name": "J-shaped sella turcica",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/j-shaped-sella-turcica"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "vacuolated-lymphocytes",
        "name": "Vacuolated lymphocytes",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/vacuolated-lymphocytes"
      }
    ],
    "related": [
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/asah1"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cln6"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cln8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}