{
  "url": "https://dantelabs.com/hu/genes/coq9",
  "gene": {
    "slug": "coq9",
    "symbol": "COQ9",
    "name": "coenzyme Q9",
    "hgnc": "HGNC:25302",
    "summary": null,
    "location": "16q21",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP434K046"
    ],
    "previousSymbols": [
      "C16orf49"
    ],
    "ensemblId": "ENSG00000088682",
    "entrezId": 57017,
    "omim": [
      "612837"
    ],
    "uniprot": [
      "O75208"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 57447479,
      "end": 57461270,
      "strand": "+",
      "ensemblTranscript": "ENST00000262507.11",
      "refseqTranscript": "NM_020312.4",
      "ensemblProtein": "ENSP00000262507.5",
      "refseqProtein": "NP_064708.1",
      "exons": [
        {
          "start": 57447479,
          "end": 57447578
        },
        {
          "start": 57451040,
          "end": 57451208
        },
        {
          "start": 57452801,
          "end": 57452936
        },
        {
          "start": 57456504,
          "end": 57456646
        },
        {
          "start": 57456931,
          "end": 57457015
        },
        {
          "start": 57458246,
          "end": 57458350
        },
        {
          "start": 57459565,
          "end": 57459720
        },
        {
          "start": 57460051,
          "end": 57460104
        },
        {
          "start": 57460589,
          "end": 57461270
        }
      ],
      "cds": {
        "start": 57447506,
        "end": 57460624
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 57481337,
      "end": 57495187,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 56954375,
      "end": 57954374,
      "genes": [
        {
          "symbol": "CETP",
          "ensemblId": "ENSG00000087237",
          "biotype": "protein_coding",
          "start": 56961922,
          "end": 56983845,
          "strand": "+",
          "slug": "cetp"
        },
        {
          "symbol": "NLRC5",
          "ensemblId": "ENSG00000140853",
          "biotype": "protein_coding",
          "start": 56989485,
          "end": 57084238,
          "strand": "+",
          "slug": "nlrc5"
        },
        {
          "symbol": "CPNE2",
          "ensemblId": "ENSG00000140848",
          "biotype": "protein_coding",
          "start": 57092517,
          "end": 57148369,
          "strand": "+",
          "slug": "cpne2"
        },
        {
          "symbol": "PSME3IP1",
          "ensemblId": "ENSG00000172775",
          "biotype": "protein_coding",
          "start": 57152466,
          "end": 57186175,
          "strand": "-",
          "slug": "psme3ip1"
        },
        {
          "symbol": "RSPRY1",
          "ensemblId": "ENSG00000159579",
          "biotype": "protein_coding",
          "start": 57186137,
          "end": 57242505,
          "strand": "+",
          "slug": "rspry1"
        },
        {
          "symbol": "ARL2BP",
          "ensemblId": "ENSG00000102931",
          "biotype": "protein_coding",
          "start": 57245098,
          "end": 57259830,
          "strand": "+",
          "slug": "arl2bp"
        },
        {
          "symbol": "PLLP",
          "ensemblId": "ENSG00000102934",
          "biotype": "protein_coding",
          "start": 57248547,
          "end": 57284683,
          "strand": "-",
          "slug": "pllp"
        },
        {
          "symbol": "CCL22",
          "ensemblId": "ENSG00000102962",
          "biotype": "protein_coding",
          "start": 57357925,
          "end": 57366191,
          "strand": "+",
          "slug": "ccl22"
        },
        {
          "symbol": "CX3CL1",
          "ensemblId": "ENSG00000006210",
          "biotype": "protein_coding",
          "start": 57372457,
          "end": 57385044,
          "strand": "+",
          "slug": "cx3cl1"
        },
        {
          "symbol": "CCL17",
          "ensemblId": "ENSG00000102970",
          "biotype": "protein_coding",
          "start": 57404767,
          "end": 57416063,
          "strand": "+",
          "slug": "ccl17"
        },
        {
          "symbol": "CIAPIN1",
          "ensemblId": "ENSG00000005194",
          "biotype": "protein_coding",
          "start": 57428169,
          "end": 57447420,
          "strand": "-",
          "slug": "ciapin1"
        },
        {
          "symbol": "POLR2C",
          "ensemblId": "ENSG00000102978",
          "biotype": "protein_coding",
          "start": 57462648,
          "end": 57472010,
          "strand": "+",
          "slug": "polr2c"
        },
        {
          "symbol": "DOK4",
          "ensemblId": "ENSG00000125170",
          "biotype": "protein_coding",
          "start": 57471917,
          "end": 57487382,
          "strand": "-",
          "slug": "dok4"
        },
        {
          "symbol": "CCDC102A",
          "ensemblId": "ENSG00000135736",
          "biotype": "protein_coding",
          "start": 57511805,
          "end": 57537163,
          "strand": "-",
          "slug": "ccdc102a"
        },
        {
          "symbol": "ADGRG5",
          "ensemblId": "ENSG00000159618",
          "biotype": "protein_coding",
          "start": 57528585,
          "end": 57591681,
          "strand": "+",
          "slug": "adgrg5"
        },
        {
          "symbol": "ADGRG1",
          "ensemblId": "ENSG00000205336",
          "biotype": "protein_coding",
          "start": 57610652,
          "end": 57665580,
          "strand": "+",
          "slug": "adgrg1"
        },
        {
          "symbol": "ADGRG3",
          "ensemblId": "ENSG00000182885",
          "biotype": "protein_coding",
          "start": 57668106,
          "end": 57689378,
          "strand": "+",
          "slug": "adgrg3"
        },
        {
          "symbol": "DRC7",
          "ensemblId": "ENSG00000159625",
          "biotype": "protein_coding",
          "start": 57694790,
          "end": 57731805,
          "strand": "+",
          "slug": "drc7"
        },
        {
          "symbol": "KATNB1",
          "ensemblId": "ENSG00000140854",
          "biotype": "protein_coding",
          "start": 57735669,
          "end": 57758271,
          "strand": "+",
          "slug": "katnb1"
        },
        {
          "symbol": "KIFC3",
          "ensemblId": "ENSG00000140859",
          "biotype": "protein_coding",
          "start": 57755668,
          "end": 57863053,
          "strand": "-",
          "slug": "kifc3"
        },
        {
          "symbol": "CNGB1",
          "ensemblId": "ENSG00000070729",
          "biotype": "protein_coding",
          "start": 57881892,
          "end": 57971128,
          "strand": "-",
          "slug": "cngb1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primary Mitochondrial Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0018151",
            "name": "Coenzyme Q10 Deficiency",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in genes needed to make coenzyme Q10, such as COQ2, COQ8A and PDSS2, which can cause kidney disease, balance problems, muscle weakness or brain disease.",
            "management": "Knowing is actionable: primary coenzyme Q10 deficiency can respond to high-dose coenzyme Q10 supplements, especially when started early.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-level-of-coenzyme-q10-in-skeletal-muscle",
        "name": "Decreased level of coenzyme Q10 in skeletal muscle",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-level-of-coenzyme-q10-in-skeletal-muscle"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/weak-cry"
      }
    ],
    "related": [
      {
        "slug": "coq2",
        "symbol": "COQ2",
        "name": "coenzyme Q2, polyprenyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq2"
      },
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "name": "coenzyme Q4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq4"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq6"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "name": "coenzyme Q7, hydroxylase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq8a"
      },
      {
        "slug": "pdss1",
        "symbol": "PDSS1",
        "name": "decaprenyl diphosphate synthase subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pdss1"
      },
      {
        "slug": "pdss2",
        "symbol": "PDSS2",
        "name": "decaprenyl diphosphate synthase subunit 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pdss2"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars1"
      },
      {
        "slug": "abhd12",
        "symbol": "ABHD12",
        "name": "abhydrolase domain containing 12, lysophospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abhd12"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/apoa1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arsa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}