{
  "url": "https://dantelabs.com/hu/genes/ndufb8",
  "gene": {
    "slug": "ndufb8",
    "symbol": "NDUFB8",
    "name": "NADH:ubiquinone oxidoreductase subunit B8",
    "hgnc": "HGNC:7703",
    "summary": null,
    "location": "10q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "ASHI",
      "CI-ASHI"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166136",
    "entrezId": 4714,
    "omim": [
      "602140"
    ],
    "uniprot": [
      "O95169"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 100523740,
      "end": 100529871,
      "strand": "-",
      "ensemblTranscript": "ENST00000299166.9",
      "refseqTranscript": "NM_005004.4",
      "ensemblProtein": "ENSP00000299166.4",
      "refseqProtein": "NP_004995.1",
      "exons": [
        {
          "start": 100523740,
          "end": 100523929
        },
        {
          "start": 100526399,
          "end": 100526554
        },
        {
          "start": 100526975,
          "end": 100527074
        },
        {
          "start": 100529380,
          "end": 100529506
        },
        {
          "start": 100529767,
          "end": 100529871
        }
      ],
      "cds": {
        "start": 100523837,
        "end": 100529851
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 102267203,
      "end": 102289757,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100026806,
      "end": 101026805,
      "genes": [
        {
          "symbol": "CPN1",
          "ensemblId": "ENSG00000120054",
          "biotype": "protein_coding",
          "start": 100041105,
          "end": 100081907,
          "strand": "-",
          "slug": "cpn1"
        },
        {
          "symbol": "ERLIN1",
          "ensemblId": "ENSG00000107566",
          "biotype": "protein_coding",
          "start": 100150094,
          "end": 100186062,
          "strand": "-",
          "slug": "erlin1"
        },
        {
          "symbol": "CHUK",
          "ensemblId": "ENSG00000213341",
          "biotype": "protein_coding",
          "start": 100188299,
          "end": 100229611,
          "strand": "-",
          "slug": "chuk"
        },
        {
          "symbol": "CWF19L1",
          "ensemblId": "ENSG00000095485",
          "biotype": "protein_coding",
          "start": 100230024,
          "end": 100267685,
          "strand": "-",
          "slug": "cwf19l1"
        },
        {
          "symbol": "BLOC1S2",
          "ensemblId": "ENSG00000196072",
          "biotype": "protein_coding",
          "start": 100272797,
          "end": 100286708,
          "strand": "-",
          "slug": "bloc1s2"
        },
        {
          "symbol": "PKD2L1",
          "ensemblId": "ENSG00000107593",
          "biotype": "protein_coding",
          "start": 100288149,
          "end": 100330264,
          "strand": "-",
          "slug": "pkd2l1"
        },
        {
          "symbol": "SCD",
          "ensemblId": "ENSG00000099194",
          "biotype": "protein_coding",
          "start": 100346508,
          "end": 100364837,
          "strand": "+",
          "slug": "scd"
        },
        {
          "symbol": "WNT8B",
          "ensemblId": "ENSG00000075290",
          "biotype": "protein_coding",
          "start": 100463009,
          "end": 100483744,
          "strand": "+",
          "slug": "wnt8b"
        },
        {
          "symbol": "SEC31B",
          "ensemblId": "ENSG00000075826",
          "biotype": "protein_coding",
          "start": 100484998,
          "end": 100519892,
          "strand": "-",
          "slug": "sec31b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000255339",
          "biotype": "protein_coding",
          "start": 100505628,
          "end": 100529881,
          "strand": "-"
        },
        {
          "symbol": "HIF1AN",
          "ensemblId": "ENSG00000166135",
          "biotype": "protein_coding",
          "start": 100529072,
          "end": 100681896,
          "strand": "+",
          "slug": "hif1an"
        },
        {
          "symbol": "PAX2",
          "ensemblId": "ENSG00000075891",
          "biotype": "protein_coding",
          "start": 100735380,
          "end": 100829944,
          "strand": "+",
          "slug": "pax2"
        },
        {
          "symbol": "SLF2",
          "ensemblId": "ENSG00000119906",
          "biotype": "protein_coding",
          "start": 100912963,
          "end": 100965134,
          "strand": "+",
          "slug": "slf2"
        },
        {
          "symbol": "MRPL43",
          "ensemblId": "ENSG00000055950",
          "biotype": "protein_coding",
          "start": 100968131,
          "end": 100990450,
          "strand": "-",
          "slug": "mrpl43"
        },
        {
          "symbol": "SEMA4G",
          "ensemblId": "ENSG00000095539",
          "biotype": "protein_coding",
          "start": 100969493,
          "end": 100985871,
          "strand": "+",
          "slug": "sema4g"
        },
        {
          "symbol": "TWNK",
          "ensemblId": "ENSG00000107815",
          "biotype": "protein_coding",
          "start": 100987367,
          "end": 100994403,
          "strand": "+",
          "slug": "twnk"
        },
        {
          "symbol": "LZTS2",
          "ensemblId": "ENSG00000107816",
          "biotype": "protein_coding",
          "start": 100996539,
          "end": 101007852,
          "strand": "+",
          "slug": "lzts2"
        },
        {
          "symbol": "PDZD7",
          "ensemblId": "ENSG00000186862",
          "biotype": "protein_coding",
          "start": 101007679,
          "end": 101032295,
          "strand": "-",
          "slug": "pdzd7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Leigh Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leigh Syndrome",
            "genes": 69,
            "inheritance": null,
            "description": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primary Mitochondrial Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitochondrial Respiratory Chain Complex Deficiency",
            "genes": 61,
            "inheritance": null,
            "description": "Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.",
            "management": "Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "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": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "patent-urachus",
        "name": "Patent urachus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-urachus"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufaf2"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufaf8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}