{
  "url": "https://dantelabs.com/sv/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": "Leighs syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leighs syndrom",
            "genes": 69,
            "inheritance": null,
            "description": "En progressiv neurologisk sjukdom som definieras av specifika neuropatologiska drag, med skador i hjärnstammen och basala ganglier.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primär mitokondriell sjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Brist på mitokondriella andningskedjekomplex",
            "genes": 61,
            "inheritance": null,
            "description": "Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.",
            "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.",
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Sällsynta ärftliga perifera neuropatier",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Ärftlig perifer neuropati",
            "genes": 233,
            "inheritance": null,
            "description": "Orsakas av förändringar i någon av de många gener som behövs för att hålla de långa nervfibrerna friska. I denna rapport ingår bland annat IGHMBP2 och PLEKHG5, som är recessiva.",
            "management": "Sjukgymnastik, ortoser och arbetsterapi hjälper till att bibehålla rörligheten, och kirurgi vid fotdeformiteter görs vid behov. Vissa former kräver uppföljning av andningen. Genetisk rådgivning vägleder släktingstestning utifrån gens ärftlighetsmönster.",
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/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/sv/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf2"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufaf8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}