{
  "url": "https://dantelabs.com/sv/genes/cox20",
  "gene": {
    "slug": "cox20",
    "symbol": "COX20",
    "name": "cytochrome c oxidase assembly factor COX20",
    "hgnc": "HGNC:26970",
    "summary": null,
    "location": "1q44",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ43269"
    ],
    "previousSymbols": [
      "FAM36A"
    ],
    "ensemblId": "ENSG00000203667",
    "entrezId": 116228,
    "omim": [
      "614698"
    ],
    "uniprot": [
      "Q5RI15"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 244835658,
      "end": 244845057,
      "strand": "+",
      "ensemblTranscript": "ENST00000411948.7",
      "refseqTranscript": "NM_198076.6",
      "ensemblProtein": "ENSP00000406327.2",
      "refseqProtein": "NP_932342.1",
      "exons": [
        {
          "start": 244835658,
          "end": 244835756
        },
        {
          "start": 244841944,
          "end": 244842058
        },
        {
          "start": 244842195,
          "end": 244842258
        },
        {
          "start": 244843041,
          "end": 244845057
        }
      ],
      "cds": {
        "start": 244835715,
        "end": 244843176
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 244998624,
      "end": 245008359,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 244340358,
      "end": 245340357,
      "genes": [
        {
          "symbol": "SPMIP3",
          "ensemblId": "ENSG00000173728",
          "biotype": "protein_coding",
          "start": 244352629,
          "end": 244389663,
          "strand": "+",
          "slug": "spmip3"
        },
        {
          "symbol": "ADSS2",
          "ensemblId": "ENSG00000035687",
          "biotype": "protein_coding",
          "start": 244407274,
          "end": 244452102,
          "strand": "-",
          "slug": "adss2"
        },
        {
          "symbol": "CATSPERE",
          "ensemblId": "ENSG00000179397",
          "biotype": "protein_coding",
          "start": 244454377,
          "end": 244641177,
          "strand": "+",
          "slug": "catspere"
        },
        {
          "symbol": "DESI2",
          "ensemblId": "ENSG00000121644",
          "biotype": "protein_coding",
          "start": 244652935,
          "end": 244722087,
          "strand": "+",
          "slug": "desi2"
        },
        {
          "symbol": "C1orf202",
          "ensemblId": "ENSG00000284188",
          "biotype": "protein_coding",
          "start": 244729701,
          "end": 244731015,
          "strand": "-",
          "slug": "c1orf202"
        },
        {
          "symbol": "HNRNPU",
          "ensemblId": "ENSG00000153187",
          "biotype": "protein_coding",
          "start": 244840638,
          "end": 244864574,
          "strand": "-",
          "slug": "hnrnpu"
        },
        {
          "symbol": "DRC8",
          "ensemblId": "ENSG00000203666",
          "biotype": "protein_coding",
          "start": 244969671,
          "end": 245127164,
          "strand": "+",
          "slug": "drc8"
        },
        {
          "symbol": "KIF26B",
          "ensemblId": "ENSG00000162849",
          "biotype": "protein_coding",
          "start": 245154541,
          "end": 245709432,
          "strand": "+",
          "slug": "kif26b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "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": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "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": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox16"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cox6b1"
      },
      {
        "slug": "coxfa4",
        "symbol": "COXFA4",
        "name": "cytochrome c oxidase associated subunit FA4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/coxfa4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}