{
  "url": "https://dantelabs.com/fi/genes/ndufaf8",
  "gene": {
    "slug": "ndufaf8",
    "symbol": "NDUFAF8",
    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
    "hgnc": "HGNC:33551",
    "summary": null,
    "location": "17q25.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "C17orf89"
    ],
    "ensemblId": "ENSG00000224877",
    "entrezId": 284184,
    "omim": [
      "618461"
    ],
    "uniprot": [
      "A1L188"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 81239318,
      "end": 81241310,
      "strand": "+",
      "ensemblTranscript": "ENST00000431388.3",
      "refseqTranscript": "NM_001086521.2",
      "ensemblProtein": "ENSP00000400184.2",
      "refseqProtein": "NP_001079990.1",
      "exons": [
        {
          "start": 81239318,
          "end": 81239447
        },
        {
          "start": 81239568,
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        },
        {
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          "end": 81241310
        }
      ],
      "cds": {
        "start": 81239364,
        "end": 81241016
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 79213039,
      "end": 79215081,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 81740313,
      "genes": [
        {
          "symbol": "RPTOR",
          "ensemblId": "ENSG00000141564",
          "biotype": "protein_coding",
          "start": 80544819,
          "end": 80966371,
          "strand": "+",
          "slug": "rptor"
        },
        {
          "symbol": "CHMP6",
          "ensemblId": "ENSG00000176108",
          "biotype": "protein_coding",
          "start": 80991598,
          "end": 81031356,
          "strand": "+",
          "slug": "chmp6"
        },
        {
          "symbol": "BAIAP2",
          "ensemblId": "ENSG00000175866",
          "biotype": "protein_coding",
          "start": 81035122,
          "end": 81117434,
          "strand": "+",
          "slug": "baiap2"
        },
        {
          "symbol": "LMTK1",
          "ensemblId": "ENSG00000181409",
          "biotype": "protein_coding",
          "start": 81110487,
          "end": 81166228,
          "strand": "-",
          "slug": "lmtk1"
        },
        {
          "symbol": "PVALEF",
          "ensemblId": "ENSG00000225180",
          "biotype": "protein_coding",
          "start": 81165507,
          "end": 81183166,
          "strand": "+",
          "slug": "pvalef"
        },
        {
          "symbol": "CEP131",
          "ensemblId": "ENSG00000141577",
          "biotype": "protein_coding",
          "start": 81189583,
          "end": 81223014,
          "strand": "-",
          "slug": "cep131"
        },
        {
          "symbol": "TEPSIN",
          "ensemblId": "ENSG00000167302",
          "biotype": "protein_coding",
          "start": 81228277,
          "end": 81239095,
          "strand": "-",
          "slug": "tepsin"
        },
        {
          "symbol": "SLC38A10",
          "ensemblId": "ENSG00000157637",
          "biotype": "protein_coding",
          "start": 81244811,
          "end": 81295567,
          "strand": "-",
          "slug": "slc38a10"
        },
        {
          "symbol": "BAHCC1",
          "ensemblId": "ENSG00000266074",
          "biotype": "protein_coding",
          "start": 81395450,
          "end": 81466331,
          "strand": "+",
          "slug": "bahcc1"
        },
        {
          "symbol": "ACTG1",
          "ensemblId": "ENSG00000184009",
          "biotype": "protein_coding",
          "start": 81509413,
          "end": 81523847,
          "strand": "-",
          "slug": "actg1"
        },
        {
          "symbol": "FSCN2",
          "ensemblId": "ENSG00000186765",
          "biotype": "protein_coding",
          "start": 81528372,
          "end": 81542415,
          "strand": "+",
          "slug": "fscn2"
        },
        {
          "symbol": "FAAP100",
          "ensemblId": "ENSG00000185504",
          "biotype": "protein_coding",
          "start": 81539885,
          "end": 81553961,
          "strand": "-",
          "slug": "faap100"
        },
        {
          "symbol": "NPLOC4",
          "ensemblId": "ENSG00000182446",
          "biotype": "protein_coding",
          "start": 81556887,
          "end": 81648465,
          "strand": "-",
          "slug": "nploc4"
        },
        {
          "symbol": "TSPAN10",
          "ensemblId": "ENSG00000182612",
          "biotype": "protein_coding",
          "start": 81637171,
          "end": 81648754,
          "strand": "+",
          "slug": "tspan10"
        },
        {
          "symbol": "PDE6G",
          "ensemblId": "ENSG00000185527",
          "biotype": "protein_coding",
          "start": 81650459,
          "end": 81663112,
          "strand": "-",
          "slug": "pde6g"
        },
        {
          "symbol": "OXLD1",
          "ensemblId": "ENSG00000204237",
          "biotype": "protein_coding",
          "start": 81665033,
          "end": 81666635,
          "strand": "-",
          "slug": "oxld1"
        },
        {
          "symbol": "CCDC137",
          "ensemblId": "ENSG00000185298",
          "biotype": "protein_coding",
          "start": 81666698,
          "end": 81673904,
          "strand": "+",
          "slug": "ccdc137"
        },
        {
          "symbol": "ARL16",
          "ensemblId": "ENSG00000214087",
          "biotype": "protein_coding",
          "start": 81681160,
          "end": 81683797,
          "strand": "-",
          "slug": "arl16"
        },
        {
          "symbol": "HGS",
          "ensemblId": "ENSG00000185359",
          "biotype": "protein_coding",
          "start": 81683326,
          "end": 81703138,
          "strand": "+",
          "slug": "hgs"
        },
        {
          "symbol": "MRPL12",
          "ensemblId": "ENSG00000262814",
          "biotype": "protein_coding",
          "start": 81703357,
          "end": 81711112,
          "strand": "+",
          "slug": "mrpl12"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000262660",
          "biotype": "protein_coding",
          "start": 81703371,
          "end": 81720539,
          "strand": "+"
        },
        {
          "symbol": "SLC25A10",
          "ensemblId": "ENSG00000183048",
          "biotype": "protein_coding",
          "start": 81711951,
          "end": 81721969,
          "strand": "+",
          "slug": "slc25a10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Leighin oireyhtymä",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leighin oireyhtymä",
            "genes": 69,
            "inheritance": null,
            "description": "Etenevä neurologinen sairaus, jolle ovat tunnusomaisia tietyt neuropatologiset piirteet, joissa aivorungon ja tyvitumakkeiden vauriot esiintyvät yhdessä.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaarinen mitokondriosairaus",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitokondrion hengitysketjun kompleksin puutos",
            "genes": 61,
            "inheritance": null,
            "description": "Kompleksien I, II, III, IV tai V yksittäinen puutos, jota aiheuttavat tumagenomin tai mitokondrion geenien variantit. Se voi vaikuttaa aivoihin, lihaksiin, sydämeen, maksaan ja muihin energiaa vaativiin elimiin.",
            "management": "Tieto voi lopettaa diagnoosin etsimisen ja ohjata sairastuneiden elinten seurantaa sekä mitokondrioille myrkyllisten lääkkeiden välttämistä.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-diffusion-weighted-cerebral-mri-morphology",
        "name": "Abnormal diffusion weighted cerebral MRI morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-diffusion-weighted-cerebral-mri-morphology"
      },
      {
        "slug": "abnormal-mitochondria-in-muscle-tissue",
        "name": "Abnormal mitochondria in muscle tissue",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "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": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "focal-t2-hyperintense-brainstem-lesion",
        "name": "Focal T2 hyperintense brainstem lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "mitochondrial-myopathy",
        "name": "Mitochondrial myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "paroxysmal-involuntary-eye-movements",
        "name": "Paroxysmal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "proximal-tubulopathy",
        "name": "Proximal tubulopathy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-tubulopathy"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufa9"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufaf2"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufaf6"
      },
      {
        "slug": "ndufb8",
        "symbol": "NDUFB8",
        "name": "NADH:ubiquinone oxidoreductase subunit B8",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufb8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}