{
  "url": "https://dantelabs.com/no/genes/coa8",
  "gene": {
    "slug": "coa8",
    "symbol": "COA8",
    "name": "cytochrome c oxidase assembly factor 8",
    "hgnc": "HGNC:20492",
    "summary": null,
    "location": "14q32.33",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC2562",
      "APOP-1"
    ],
    "previousSymbols": [
      "C14orf153",
      "APOPT1"
    ],
    "ensemblId": "ENSG00000256053",
    "entrezId": 84334,
    "omim": [
      "616003"
    ],
    "uniprot": [
      "Q96IL0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 103562960,
      "end": 103590896,
      "strand": "+",
      "ensemblTranscript": "ENST00000409074.8",
      "refseqTranscript": "NM_001370595.2",
      "ensemblProtein": "ENSP00000386485.3",
      "refseqProtein": "NP_001357524.1",
      "exons": [
        {
          "start": 103562960,
          "end": 103563124
        },
        {
          "start": 103571623,
          "end": 103571820
        },
        {
          "start": 103574107,
          "end": 103574170
        },
        {
          "start": 103587274,
          "end": 103587364
        },
        {
          "start": 103590181,
          "end": 103590896
        }
      ],
      "cds": {
        "start": 103563002,
        "end": 103590286
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 104029299,
      "end": 104073860,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 103076928,
      "end": 104076927,
      "genes": [
        {
          "symbol": "LBHD2",
          "ensemblId": "ENSG00000283071",
          "biotype": "protein_coding",
          "start": 103084174,
          "end": 103090031,
          "strand": "+",
          "slug": "lbhd2"
        },
        {
          "symbol": "EXOC3L4",
          "ensemblId": "ENSG00000205436",
          "biotype": "protein_coding",
          "start": 103094538,
          "end": 103110571,
          "strand": "+",
          "slug": "exoc3l4"
        },
        {
          "symbol": "TNFAIP2",
          "ensemblId": "ENSG00000185215",
          "biotype": "protein_coding",
          "start": 103121265,
          "end": 103137441,
          "strand": "+",
          "slug": "tnfaip2"
        },
        {
          "symbol": "EIF5",
          "ensemblId": "ENSG00000100664",
          "biotype": "protein_coding",
          "start": 103333544,
          "end": 103345025,
          "strand": "+",
          "slug": "eif5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000291313",
          "biotype": "protein_coding",
          "start": 103334237,
          "end": 103335932,
          "strand": "+"
        },
        {
          "symbol": "MARK3",
          "ensemblId": "ENSG00000075413",
          "biotype": "protein_coding",
          "start": 103385361,
          "end": 103503835,
          "strand": "+",
          "slug": "mark3"
        },
        {
          "symbol": "CKB",
          "ensemblId": "ENSG00000166165",
          "biotype": "protein_coding",
          "start": 103519660,
          "end": 103523167,
          "strand": "-",
          "slug": "ckb"
        },
        {
          "symbol": "TRMT61A",
          "ensemblId": "ENSG00000166166",
          "biotype": "protein_coding",
          "start": 103521582,
          "end": 103537073,
          "strand": "+",
          "slug": "trmt61a"
        },
        {
          "symbol": "BAG5",
          "ensemblId": "ENSG00000166170",
          "biotype": "protein_coding",
          "start": 103556545,
          "end": 103576759,
          "strand": "-",
          "slug": "bag5"
        },
        {
          "symbol": "KLC1",
          "ensemblId": "ENSG00000126214",
          "biotype": "protein_coding",
          "start": 103561896,
          "end": 103714249,
          "strand": "+",
          "slug": "klc1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000256500",
          "biotype": "protein_coding",
          "start": 103562962,
          "end": 103685924,
          "strand": "+"
        },
        {
          "symbol": "XRCC3",
          "ensemblId": "ENSG00000126215",
          "biotype": "protein_coding",
          "start": 103697569,
          "end": 103715504,
          "strand": "-",
          "slug": "xrcc3"
        },
        {
          "symbol": "ZFYVE21",
          "ensemblId": "ENSG00000100711",
          "biotype": "protein_coding",
          "start": 103715725,
          "end": 103733669,
          "strand": "+",
          "slug": "zfyve21"
        },
        {
          "symbol": "PPP1R13B",
          "ensemblId": "ENSG00000088808",
          "biotype": "protein_coding",
          "start": 103733177,
          "end": 103847616,
          "strand": "-",
          "slug": "ppp1r13b"
        },
        {
          "symbol": "ATP5MJ",
          "ensemblId": "ENSG00000156411",
          "biotype": "protein_coding",
          "start": 103912277,
          "end": 103929158,
          "strand": "-",
          "slug": "atp5mj"
        },
        {
          "symbol": "TDRD9",
          "ensemblId": "ENSG00000156414",
          "biotype": "protein_coding",
          "start": 103928424,
          "end": 104052682,
          "strand": "+",
          "slug": "tdrd9"
        },
        {
          "symbol": "RD3L",
          "ensemblId": "ENSG00000227729",
          "biotype": "protein_coding",
          "start": 103940426,
          "end": 103942561,
          "strand": "-",
          "slug": "rd3l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primær mitokondriesykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mangel på respirasjonskjede-kompleks",
            "genes": 61,
            "inheritance": null,
            "description": "Isolerte mangler på kompleks I, II, III, IV eller V, forårsaket av varianter i kjerne- eller mitokondriegener. Dette kan påvirke hjernen, musklene, hjertet, leveren og andre organer med høyt energibehov.",
            "management": "Å få vite dette kan avslutte en diagnostisk leting og veilede oppfølging av berørte organer og unngåelse av legemidler som er giftige for mitokondriene.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bilateral-sensorineural-hearing-impairment",
        "name": "Bilateral sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment"
      },
      {
        "slug": "cavitating-leukodystrophy",
        "name": "Cavitating leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cavitating-leukodystrophy"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "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": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "diffuse-hepatic-steatosis",
        "name": "Diffuse hepatic steatosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diffuse-hepatic-steatosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigable-weakness-of-swallowing-muscles",
        "name": "Fatigable weakness of swallowing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-swallowing-muscles"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "hyperphosphaturia",
        "name": "High urine phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperphosphaturia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "progressive-leukoencephalopathy",
        "name": "Progressive leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-leukoencephalopathy"
      },
      {
        "slug": "progressive-peripheral-neuropathy",
        "name": "Progressive peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-peripheral-neuropathy"
      },
      {
        "slug": "renal-fanconi-syndrome",
        "name": "Renal Fanconi syndrome",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-fanconi-syndrome"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/coa6"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cox6b1"
      },
      {
        "slug": "coxfa4",
        "symbol": "COXFA4",
        "name": "cytochrome c oxidase associated subunit FA4",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/coxfa4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}