{
  "url": "https://dantelabs.com/lt/genes/ndufaf2",
  "gene": {
    "slug": "ndufaf2",
    "symbol": "NDUFAF2",
    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
    "hgnc": "HGNC:28086",
    "summary": null,
    "location": "5q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "B17.2L",
      "MMTN",
      "mimitin"
    ],
    "previousSymbols": [
      "NDUFA12L"
    ],
    "ensemblId": "ENSG00000164182",
    "entrezId": 91942,
    "omim": [
      "609653"
    ],
    "uniprot": [
      "Q8N183"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 60945205,
      "end": 61153026,
      "strand": "+",
      "ensemblTranscript": "ENST00000296597.10",
      "refseqTranscript": "NM_174889.5",
      "ensemblProtein": "ENSP00000296597.5",
      "refseqProtein": "NP_777549.1",
      "exons": [
        {
          "start": 60945205,
          "end": 60945382
        },
        {
          "start": 61073125,
          "end": 61073214
        },
        {
          "start": 61098992,
          "end": 61099032
        },
        {
          "start": 61152704,
          "end": 61153026
        }
      ],
      "cds": {
        "start": 60945256,
        "end": 61152955
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 60240956,
      "end": 60448853,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 60549116,
      "end": 61549115,
      "genes": [
        {
          "symbol": "DEPDC1B",
          "ensemblId": "ENSG00000035499",
          "biotype": "protein_coding",
          "start": 60596912,
          "end": 60700199,
          "strand": "-",
          "slug": "depdc1b"
        },
        {
          "symbol": "ELOVL7",
          "ensemblId": "ENSG00000164181",
          "biotype": "protein_coding",
          "start": 60751791,
          "end": 60844589,
          "strand": "-",
          "slug": "elovl7"
        },
        {
          "symbol": "ERCC8",
          "ensemblId": "ENSG00000049167",
          "biotype": "protein_coding",
          "start": 60866454,
          "end": 60945078,
          "strand": "-",
          "slug": "ercc8"
        },
        {
          "symbol": "SMIM15",
          "ensemblId": "ENSG00000188725",
          "biotype": "protein_coding",
          "start": 61153910,
          "end": 61163142,
          "strand": "-",
          "slug": "smim15"
        },
        {
          "symbol": "ZSWIM6",
          "ensemblId": "ENSG00000130449",
          "biotype": "protein_coding",
          "start": 61332258,
          "end": 61546519,
          "strand": "+",
          "slug": "zswim6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leigh-syndrome",
        "name": "Lėjo sindromas",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Lėjo sindromas",
            "genes": 69,
            "inheritance": null,
            "description": "Progresuojanti neurologinė liga, apibrėžiama tam tikromis neuropatologinėmis ypatybėmis, kurioms būdingi smegenų kamieno ir bazinių ganglijų pažeidimai.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/leigh-syndrome"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primarna mitochondrinė liga",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitochondrijų kvėpavimo grandinės kompleksų nepakankamumas",
            "genes": 61,
            "inheritance": null,
            "description": "Izoliuotas I, II, III, IV ar V komplekso nepakankamumas, kurį sukelia branduolio ar mitochondrijų genų variantai. Jis gali paveikti smegenis, raumenis, širdį, kepenis ir kitus daug energijos naudojančius organus.",
            "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti pažeistus organus bei vengti vaistų, toksiškų mitochondrijoms.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "central-hypoventilation",
        "name": "Central hypoventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/central-hypoventilation"
      },
      {
        "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": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "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"
        ],
        "frequency": "very-rare",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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"
        ],
        "frequency": "obligate",
        "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": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "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": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "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": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "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",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "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"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/cox10"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/foxred1"
      },
      {
        "slug": "lrpprc",
        "symbol": "LRPPRC",
        "name": "leucine rich pentatricopeptide repeat containing",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/lrpprc"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufa13"
      },
      {
        "slug": "ndufa2",
        "symbol": "NDUFA2",
        "name": "NADH:ubiquinone oxidoreductase subunit A2",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufa2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufa9"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufaf5"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufaf6"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufaf8"
      },
      {
        "slug": "ndufb8",
        "symbol": "NDUFB8",
        "name": "NADH:ubiquinone oxidoreductase subunit B8",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufb8"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/ndufs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}