{
  "url": "https://dantelabs.com/nl/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": "Primaire mitochondriële ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Deficiëntie van het mitochondriale ademhalingsketencomplex",
            "genes": 61,
            "inheritance": null,
            "description": "Geïsoleerde deficiënties van complex I, II, III, IV of V, veroorzaakt door varianten in nucleaire of mitochondriale genen. Ze kunnen de hersenen, spieren, het hart, de lever en andere organen met een hoge energiebehoefte aantasten.",
            "management": "Weten kan een diagnostisch zoektraject beëindigen en helpt bij de controle van aangedane organen en bij het vermijden van geneesmiddelen die giftig zijn voor mitochondriën.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/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/nl/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}