COQ4 Chromosome 9
Coenzyme Q4
Upload your DNA to see your personal genotypes for variants in COQ4.
What This Gene Does
This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Associated Conditions (8)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Inborn genetic diseases
Hereditary spastic paraplegia
Spastic ataxia 10
autosomal recessive
Spastic ataxia
Developmental disorder
COQ4-related disorder
Key Variants
RS1045118320
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Hereditary spastic paraplegia
Health Risk
RS1163170578
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS1308093660
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS146533802
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS2539409368
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS371984550
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive
Health Risk
RS568200779
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS751764908
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive
Health Risk
RS757173567
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Developmental disorder, Inborn genetic diseases
Health Risk
RS760080044
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS766317663
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
RS773943371
Conflicting classifications of pathogenicity
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045118320 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Hereditary spastic paraplegia |
| RS1163170578 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1308093660 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS146533802 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS2539409368 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS371984550 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive |
| RS568200779 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS751764908 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive |
| RS757173567 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Developmental disorder, Inborn genetic diseases |
| RS760080044 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS766317663 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS773943371 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS779568890 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS886040973 | Health Risk | Conflicting classifications of pathogenicity | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1183420702 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1255137785 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS141303335 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1832230836 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2131235872 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS2539415192 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS762083094 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS767839639 | Health Risk | Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1232690058 | Health Risk | Pathogenic | Spastic ataxia 10, autosomal recessive, Spastic ataxia 10 |
| RS1352310924 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1408133351 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1412692974 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1440543613 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1554796655 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS1832448970 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS2539410162 | Health Risk | Pathogenic | Spastic ataxia 10, autosomal recessive, Spastic ataxia 10 |
| RS749504112 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS758522459 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS762170679 | Health Risk | Pathogenic | Spastic ataxia 10, autosomal recessive, Spastic ataxia 10 |
| RS774395996 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS775607037 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS776825296 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive |
| RS786204770 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS786204771 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS886041549 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive |
| RS909428117 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS929713295 | Health Risk | Pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia, Spastic ataxia 10 |
| RS143441644 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia, Inborn genetic diseases |
| RS747779231 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, COQ4-related disorder, Spastic ataxia 10 |
| RS748924643 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, COQ4-related disorder, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| RS776074348 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10, autosomal recessive |