{
  "url": "https://dantelabs.com/lt/genes/grxcr1",
  "gene": {
    "slug": "grxcr1",
    "symbol": "GRXCR1",
    "name": "glutaredoxin and cysteine rich domain containing 1",
    "hgnc": "HGNC:31673",
    "summary": null,
    "location": "4p13",
    "locusType": "gene with protein product",
    "aliases": [
      "PPP1R88"
    ],
    "previousSymbols": [
      "DFNB25"
    ],
    "ensemblId": "ENSG00000215203",
    "entrezId": 389207,
    "omim": [
      "613283"
    ],
    "uniprot": [
      "A8MXD5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 42892713,
      "end": 43030658,
      "strand": "+",
      "ensemblTranscript": "ENST00000399770.3",
      "refseqTranscript": "NM_001080476.3",
      "ensemblProtein": "ENSP00000382670.2",
      "refseqProtein": "NP_001073945.1",
      "exons": [
        {
          "start": 42892713,
          "end": 42893650
        },
        {
          "start": 42962892,
          "end": 42963134
        },
        {
          "start": 43020354,
          "end": 43020419
        },
        {
          "start": 43030361,
          "end": 43030658
        }
      ],
      "cds": {
        "start": 42893267,
        "end": 43030540
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 42895284,
      "end": 43032675,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42461686,
      "end": 43461685,
      "genes": [
        {
          "symbol": "ATP8A1",
          "ensemblId": "ENSG00000124406",
          "biotype": "protein_coding",
          "start": 42408373,
          "end": 42657144,
          "strand": "-",
          "slug": "atp8a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Klausos ir kurtumas",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Nesindrominė paveldima klausos netekimas",
            "genes": 97,
            "inheritance": null,
            "description": "Paveldimas klausos netekimas be kitų medicininių požymių, įskaitant dažniausias recesyvines formas, kurias sukelia GJB2, OTOF, SLC26A4, STRC ir daugelis kitų genų, taip pat dominantines, X chromosomai susietas ir mitochondrines formas.",
            "management": "Žinojimas apie genetinę priežastį gali padėti priimti sprendimus dėl klausos pagalbos ir kochlearinio implanto, nustatyti tinkamumą genų terapijos tyrimams (pavyzdžiui, OTOF) bei suteikti konsultacijas šeimai.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}