{
  "url": "https://dantelabs.com/fr/genes/uqcrb",
  "gene": {
    "slug": "uqcrb",
    "symbol": "UQCRB",
    "name": "ubiquinol-cytochrome c reductase binding protein",
    "hgnc": "HGNC:12582",
    "summary": null,
    "location": "8q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "QP-C",
      "QCR7",
      "UQCR6"
    ],
    "previousSymbols": [
      "UQBP"
    ],
    "ensemblId": "ENSG00000156467",
    "entrezId": 7381,
    "omim": [
      "191330"
    ],
    "uniprot": [
      "P14927"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 96222947,
      "end": 96235545,
      "strand": "-",
      "ensemblTranscript": "ENST00000287022.10",
      "refseqTranscript": "NM_006294.5",
      "ensemblProtein": "ENSP00000287022.5",
      "refseqProtein": "NP_006285.1",
      "exons": [
        {
          "start": 96222947,
          "end": 96231132
        },
        {
          "start": 96231774,
          "end": 96231940
        },
        {
          "start": 96233156,
          "end": 96233227
        },
        {
          "start": 96235512,
          "end": 96235545
        }
      ],
      "cds": {
        "start": 96231055,
        "end": 96235530
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 97238148,
      "end": 97247862,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95729246,
      "end": 96729245,
      "genes": [
        {
          "symbol": "GDF6",
          "ensemblId": "ENSG00000156466",
          "biotype": "protein_coding",
          "start": 96142333,
          "end": 96160813,
          "strand": "-",
          "slug": "gdf6"
        },
        {
          "symbol": "MTERF3",
          "ensemblId": "ENSG00000156469",
          "biotype": "protein_coding",
          "start": 96238162,
          "end": 96261626,
          "strand": "-",
          "slug": "mterf3"
        },
        {
          "symbol": "PTDSS1",
          "ensemblId": "ENSG00000156471",
          "biotype": "protein_coding",
          "start": 96261885,
          "end": 96386078,
          "strand": "+",
          "slug": "ptdss1"
        },
        {
          "symbol": "SDC2",
          "ensemblId": "ENSG00000169439",
          "biotype": "protein_coding",
          "start": 96493410,
          "end": 96613465,
          "strand": "+",
          "slug": "sdc2"
        },
        {
          "symbol": "CPQ",
          "ensemblId": "ENSG00000104324",
          "biotype": "protein_coding",
          "start": 96644982,
          "end": 97152036,
          "strand": "+",
          "slug": "cpq"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Maladie mitochondriale primaire",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Déficit du complexe de la chaîne respiratoire mitochondriale",
            "genes": 61,
            "inheritance": null,
            "description": "Déficits isolés des complexes I, II, III, IV ou V, causés par des variants de gènes nucléaires ou mitochondriaux, pouvant toucher le cerveau, les muscles, le cœur, le foie et d'autres organes à forte demande énergétique.",
            "management": "Connaître ce résultat peut mettre fin à une recherche diagnostique et guider la surveillance des organes atteints ainsi que l'éviction des médicaments toxiques pour les mitochondries.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "alaninuria",
        "name": "Alaninuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alaninuria"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}