{
  "url": "https://dantelabs.com/tr/genes/gsr",
  "gene": {
    "slug": "gsr",
    "symbol": "GSR",
    "name": "glutathione-disulfide reductase",
    "hgnc": "HGNC:4623",
    "summary": null,
    "location": "8p12",
    "locusType": "gene with protein product",
    "aliases": [
      "GRase"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000104687",
    "entrezId": 2936,
    "omim": [
      "138300"
    ],
    "uniprot": [
      "P00390"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 30678066,
      "end": 30727846,
      "strand": "-",
      "ensemblTranscript": "ENST00000221130.11",
      "refseqTranscript": "NM_000637.5",
      "ensemblProtein": "ENSP00000221130.5",
      "refseqProtein": "NP_000628.2",
      "exons": [
        {
          "start": 30678066,
          "end": 30679669
        },
        {
          "start": 30680904,
          "end": 30681037
        },
        {
          "start": 30681930,
          "end": 30682061
        },
        {
          "start": 30684088,
          "end": 30684199
        },
        {
          "start": 30689161,
          "end": 30689319
        },
        {
          "start": 30692969,
          "end": 30693055
        },
        {
          "start": 30696380,
          "end": 30696479
        },
        {
          "start": 30700081,
          "end": 30700135
        },
        {
          "start": 30703093,
          "end": 30703240
        },
        {
          "start": 30708072,
          "end": 30708141
        },
        {
          "start": 30709814,
          "end": 30709902
        },
        {
          "start": 30712062,
          "end": 30712088
        },
        {
          "start": 30727530,
          "end": 30727846
        }
      ],
      "cds": {
        "start": 30679520,
        "end": 30727835
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 30535583,
      "end": 30585443,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30202956,
      "end": 31202955,
      "genes": [
        {
          "symbol": "RBPMS",
          "ensemblId": "ENSG00000157110",
          "biotype": "protein_coding",
          "start": 30383636,
          "end": 30572261,
          "strand": "+",
          "slug": "rbpms"
        },
        {
          "symbol": "GTF2E2",
          "ensemblId": "ENSG00000197265",
          "biotype": "protein_coding",
          "start": 30578318,
          "end": 30660846,
          "strand": "-",
          "slug": "gtf2e2"
        },
        {
          "symbol": "SMIM18",
          "ensemblId": "ENSG00000253457",
          "biotype": "protein_coding",
          "start": 30638559,
          "end": 30647260,
          "strand": "+",
          "slug": "smim18"
        },
        {
          "symbol": "UBXN8",
          "ensemblId": "ENSG00000104691",
          "biotype": "protein_coding",
          "start": 30729131,
          "end": 30767009,
          "strand": "+",
          "slug": "ubxn8"
        },
        {
          "symbol": "PPP2CB",
          "ensemblId": "ENSG00000104695",
          "biotype": "protein_coding",
          "start": 30774096,
          "end": 30814314,
          "strand": "-",
          "slug": "ppp2cb"
        },
        {
          "symbol": "TEX15",
          "ensemblId": "ENSG00000133863",
          "biotype": "protein_coding",
          "start": 30831425,
          "end": 30913024,
          "strand": "-",
          "slug": "tex15"
        },
        {
          "symbol": "PURG",
          "ensemblId": "ENSG00000172733",
          "biotype": "protein_coding",
          "start": 30994702,
          "end": 31033715,
          "strand": "-",
          "slug": "purg"
        },
        {
          "symbol": "WRN",
          "ensemblId": "ENSG00000165392",
          "biotype": "protein_coding",
          "start": 31033761,
          "end": 31176138,
          "strand": "+",
          "slug": "wrn"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders",
        "name": "Piruvat Kinaz Eksikliği ve Diğer Kırmızı Hücre Enzim Bozuklukları",
        "diseases": [
          {
            "mondoId": "MONDO:0019531",
            "name": "Glutatyon Redüktaz Eksikliği",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "GSR genindeki değişikliklerden kaynaklanan nadir bir çekinik durumdur; bu durumda kırmızı hücreler oksidatif hasara karşı savunmasızdır, bu nedenle bakla yenmesinin veya bazı ilaçların ardından hemoliz görülebilir; katarakt da gelişebilir.",
            "management": "Bu durumun bilinmesi, baklaya ve hemolizi tetikleyebilecek ilaçlardan kaçınmanıza yardımcı olur.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "fava-bean-induced-hemolytic-anemia",
        "name": "Fava bean-induced hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/fava-bean-induced-hemolytic-anemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "reduced-erythrocyte-glutathione-reductase-activity",
        "name": "Reduced erythrocyte glutathione reductase activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-erythrocyte-glutathione-reductase-activity"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}