{
  "url": "https://dantelabs.com/hu/genes/ndufc2",
  "gene": {
    "slug": "ndufc2",
    "symbol": "NDUFC2",
    "name": "NADH:ubiquinone oxidoreductase subunit C2",
    "hgnc": "HGNC:7706",
    "summary": null,
    "location": "11q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "B14.5b",
      "HLC-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000151366",
    "entrezId": 4718,
    "omim": [
      "603845"
    ],
    "uniprot": [
      "O95298"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 78068297,
      "end": 78079862,
      "strand": "-",
      "ensemblTranscript": "ENST00000281031.5",
      "refseqTranscript": "NM_004549.6",
      "ensemblProtein": "ENSP00000281031.4",
      "refseqProtein": "NP_004540.1",
      "exons": [
        {
          "start": 78068297,
          "end": 78070036
        },
        {
          "start": 78072998,
          "end": 78073141
        },
        {
          "start": 78079579,
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        }
      ],
      "cds": {
        "start": 78069987,
        "end": 78079744
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 77779350,
      "end": 77791265,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 77574080,
      "end": 78574079,
      "genes": [
        {
          "symbol": "CLNS1A",
          "ensemblId": "ENSG00000074201",
          "biotype": "protein_coding",
          "start": 77514936,
          "end": 77637813,
          "strand": "-",
          "slug": "clns1a"
        },
        {
          "symbol": "AQP11",
          "ensemblId": "ENSG00000178301",
          "biotype": "protein_coding",
          "start": 77589391,
          "end": 77635772,
          "strand": "+",
          "slug": "aqp11"
        },
        {
          "symbol": "RSF1",
          "ensemblId": "ENSG00000048649",
          "biotype": "protein_coding",
          "start": 77660009,
          "end": 77821020,
          "strand": "-",
          "slug": "rsf1"
        },
        {
          "symbol": "AAMDC",
          "ensemblId": "ENSG00000087884",
          "biotype": "protein_coding",
          "start": 77821100,
          "end": 77918693,
          "strand": "+",
          "slug": "aamdc"
        },
        {
          "symbol": "INTS4",
          "ensemblId": "ENSG00000149262",
          "biotype": "protein_coding",
          "start": 77874418,
          "end": 77994874,
          "strand": "-",
          "slug": "ints4"
        },
        {
          "symbol": "KCTD14",
          "ensemblId": "ENSG00000151364",
          "biotype": "protein_coding",
          "start": 78015715,
          "end": 78046191,
          "strand": "-",
          "slug": "kctd14"
        },
        {
          "symbol": "NDUFC2-KCTD14",
          "ensemblId": "ENSG00000259112",
          "biotype": "protein_coding",
          "start": 78016971,
          "end": 78079865,
          "strand": "-",
          "slug": "ndufc2-kctd14"
        },
        {
          "symbol": "THRSP",
          "ensemblId": "ENSG00000151365",
          "biotype": "protein_coding",
          "start": 78063660,
          "end": 78068351,
          "strand": "+",
          "slug": "thrsp"
        },
        {
          "symbol": "ALG8",
          "ensemblId": "ENSG00000159063",
          "biotype": "protein_coding",
          "start": 78095244,
          "end": 78139660,
          "strand": "-",
          "slug": "alg8"
        },
        {
          "symbol": "KCTD21",
          "ensemblId": "ENSG00000188997",
          "biotype": "protein_coding",
          "start": 78171233,
          "end": 78188644,
          "strand": "-",
          "slug": "kctd21"
        },
        {
          "symbol": "USP35",
          "ensemblId": "ENSG00000118369",
          "biotype": "protein_coding",
          "start": 78188797,
          "end": 78215232,
          "strand": "+",
          "slug": "usp35"
        },
        {
          "symbol": "GAB2",
          "ensemblId": "ENSG00000033327",
          "biotype": "protein_coding",
          "start": 78215293,
          "end": 78418348,
          "strand": "-",
          "slug": "gab2"
        },
        {
          "symbol": "NARS2",
          "ensemblId": "ENSG00000137513",
          "biotype": "protein_coding",
          "start": 78435539,
          "end": 78575194,
          "strand": "-",
          "slug": "nars2"
        }
      ],
      "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"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "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": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "hyperprolinemia",
        "name": "Hyperprolinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperprolinemia"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "perimembranous-ventricular-septal-defect",
        "name": "Perimembranous ventricular septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perimembranous-ventricular-septal-defect"
      },
      {
        "slug": "periventricular-leukomalacia",
        "name": "Periventricular leukomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periventricular-leukomalacia"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      }
    ],
    "related": [
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp5mk",
        "symbol": "ATP5MK",
        "name": "ATP synthase membrane subunit k",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp5mk"
      },
      {
        "slug": "btd",
        "symbol": "BTD",
        "name": "biotinidase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/btd"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cox10"
      },
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "name": "dihydrolipoamide S-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dlat"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dld"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ears2"
      },
      {
        "slug": "echs1",
        "symbol": "ECHS1",
        "name": "enoyl-CoA hydratase, short chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/echs1"
      },
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "name": "ETHE1 persulfide dioxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ethe1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fars2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fbxl4"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/foxred1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}