{
  "url": "https://dantelabs.com/fi/genes/ssbp1",
  "gene": {
    "slug": "ssbp1",
    "symbol": "SSBP1",
    "name": "single stranded DNA binding protein 1",
    "hgnc": "HGNC:11317",
    "summary": null,
    "location": "7q34",
    "locusType": "gene with protein product",
    "aliases": [
      "SSBP",
      "mtSSB"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106028",
    "entrezId": 6742,
    "omim": [
      "600439"
    ],
    "uniprot": [
      "Q04837"
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    "model": {
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      "release": "v1.5",
      "chrom": "7",
      "start": 141738358,
      "end": 141750488,
      "strand": "+",
      "ensemblTranscript": "ENST00000265304.11",
      "refseqTranscript": "NM_003143.3",
      "ensemblProtein": "ENSP00000265304.6",
      "refseqProtein": "NP_003134.1",
      "exons": [
        {
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        },
        {
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        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 141739167,
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
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      "end": 141487722,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 141244423,
      "end": 142244422,
      "genes": [
        {
          "symbol": "TMEM178B",
          "ensemblId": "ENSG00000261115",
          "biotype": "protein_coding",
          "start": 141074038,
          "end": 141480380,
          "strand": "+",
          "slug": "tmem178b"
        },
        {
          "symbol": "AGK",
          "ensemblId": "ENSG00000006530",
          "biotype": "protein_coding",
          "start": 141551278,
          "end": 141657486,
          "strand": "+",
          "slug": "agk"
        },
        {
          "symbol": "DENND11",
          "ensemblId": "ENSG00000257093",
          "biotype": "protein_coding",
          "start": 141656728,
          "end": 141702185,
          "strand": "-",
          "slug": "dennd11"
        },
        {
          "symbol": "WEE2",
          "ensemblId": "ENSG00000214102",
          "biotype": "protein_coding",
          "start": 141702227,
          "end": 141731271,
          "strand": "+",
          "slug": "wee2"
        },
        {
          "symbol": "TAS2R3",
          "ensemblId": "ENSG00000127362",
          "biotype": "protein_coding",
          "start": 141764097,
          "end": 141765197,
          "strand": "+",
          "slug": "tas2r3"
        },
        {
          "symbol": "TAS2R4",
          "ensemblId": "ENSG00000127364",
          "biotype": "protein_coding",
          "start": 141776674,
          "end": 141781691,
          "strand": "+",
          "slug": "tas2r4"
        },
        {
          "symbol": "TAS2R5",
          "ensemblId": "ENSG00000127366",
          "biotype": "protein_coding",
          "start": 141790217,
          "end": 141791367,
          "strand": "+",
          "slug": "tas2r5"
        },
        {
          "symbol": "PRSS37",
          "ensemblId": "ENSG00000165076",
          "biotype": "protein_coding",
          "start": 141836300,
          "end": 141841487,
          "strand": "-",
          "slug": "prss37"
        },
        {
          "symbol": "OR9A1P",
          "ensemblId": "ENSG00000237621",
          "biotype": "protein_coding",
          "start": 141887148,
          "end": 141888092,
          "strand": "+",
          "slug": "or9a1p"
        },
        {
          "symbol": "MGAM",
          "ensemblId": "ENSG00000257335",
          "biotype": "protein_coding",
          "start": 141907813,
          "end": 142106747,
          "strand": "+",
          "slug": "mgam"
        },
        {
          "symbol": "OR9A4",
          "ensemblId": "ENSG00000258083",
          "biotype": "protein_coding",
          "start": 141916399,
          "end": 141920625,
          "strand": "+",
          "slug": "or9a4"
        },
        {
          "symbol": "CLEC5A",
          "ensemblId": "ENSG00000258227",
          "biotype": "protein_coding",
          "start": 141927357,
          "end": 141947007,
          "strand": "-",
          "slug": "clec5a"
        },
        {
          "symbol": "TAS2R38",
          "ensemblId": "ENSG00000257138",
          "biotype": "protein_coding",
          "start": 141972631,
          "end": 141973773,
          "strand": "-",
          "slug": "tas2r38"
        },
        {
          "symbol": "MGAM2",
          "ensemblId": "ENSG00000257743",
          "biotype": "protein_coding",
          "start": 142111718,
          "end": 142222324,
          "strand": "+",
          "slug": "mgam2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-optic-neuropathy",
        "name": "Perinnöllinen optikusneuropatia",
        "diseases": [
          {
            "mondoId": "MONDO:0043878",
            "name": "Perinnöllinen näkohermon surkastuma",
            "genes": 13,
            "inheritance": null,
            "description": "Perinnöllinen näkohermon kuitujen menetys, useimmiten OPA1-geenin muutosten aiheuttama autosomaalinen dominantti näkohermon surkastuma, mukaan lukien harvinaisemmat OPA3-, DNM1L-, SSBP1- ja muiden geenien aiheuttamat muodot.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-optic-neuropathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      }
    ],
    "related": [
      {
        "slug": "aco2",
        "symbol": "ACO2",
        "name": "aconitase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aco2"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/afg3l2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp1a3"
      },
      {
        "slug": "dnm1l",
        "symbol": "DNM1L",
        "name": "dynamin 1L",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dnm1l"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mt-nd1"
      },
      {
        "slug": "mt-nd4",
        "symbol": "MT-ND4",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mt-nd4"
      },
      {
        "slug": "mt-nd5",
        "symbol": "MT-ND5",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mt-nd5"
      },
      {
        "slug": "mt-nd6",
        "symbol": "MT-ND6",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/mt-nd6"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/opa1"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/opa3"
      },
      {
        "slug": "rtn4ip1",
        "symbol": "RTN4IP1",
        "name": "reticulon 4 interacting protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/rtn4ip1"
      },
      {
        "slug": "tmem126a",
        "symbol": "TMEM126A",
        "name": "transmembrane protein 126A",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/tmem126a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}