COQ8A Chromosome 1
Coenzyme Q8A
Upload your DNA to see your personal genotypes for variants in COQ8A.
What This Gene Does
This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ADCK family
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000163050
Associated Conditions (17)
Autosomal recessive ataxia due to ubiquinone deficiency
See cases
Abnormality of the nervous system
COQ8A-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Cervical cancer
Hepatocellular carcinoma
Coenzyme Q10 deficiency
primary
1
Mitochondrial disease
Cerebellar ataxia
7 conditions
Global developmental delay
Possible mitochondrial disorder - nuclear genes
Familial cancer of breast
Key Variants
RS1057519344
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS113041399
Conflicting classifications of pathogenicity
Health Risk
RS119468004
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, See cases, Abnormality of the nervous system
Health Risk
RS137872711
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS138727410
Conflicting classifications of pathogenicity
COQ8A-related disorder, COQ8A-related disorder
Health Risk
RS139133094
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS139570869
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS141423403
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS142184584
Conflicting classifications of pathogenicity
Health Risk
RS144147839
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS1444332878
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
RS145034527
Conflicting classifications of pathogenicity
Autosomal recessive ataxia due to ubiquinone deficiency, See cases, Autosomal recessive ataxia due to ubiquinone deficiency
Health Risk
All Variants (156)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767634570 | Health Risk | Likely pathogenic | — |
| RS778798354 | Health Risk | Likely pathogenic | — |
| RS781518112 | Health Risk | Likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS863223884 | Health Risk | Likely pathogenic | — |
| RS863223887 | Health Risk | Likely pathogenic | — |
| RS959109094 | Health Risk | Likely pathogenic | Cerebellar ataxia, Cerebellar ataxia |
| RS1057519343 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS119468008 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS1229054489 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS1271428051 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS1350444582 | Health Risk | Pathogenic | — |
| RS1395498196 | Health Risk | Pathogenic | — |
| RS1473126291 | Health Risk | Pathogenic | COQ8A-related disorder, COQ8A-related disorder |
| RS1553280621 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS1553281318 | Health Risk | Pathogenic | 7 conditions, Autosomal recessive ataxia due to ubiquinone deficiency, 7 conditions |
| RS1572040505 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS1658476495 | Health Risk | Pathogenic | — |
| RS1659733643 | Health Risk | Pathogenic | — |
| RS1659735679 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS2148051981 | Health Risk | Pathogenic | — |
| RS2148132672 | Health Risk | Pathogenic | — |
| RS2528255279 | Health Risk | Pathogenic | — |
| RS2528380839 | Health Risk | Pathogenic | — |
| RS2528380932 | Health Risk | Pathogenic | — |
| RS2528399382 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS376478331 | Health Risk | Pathogenic | — |
| RS387906298 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS606231138 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS606231139 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS745711486 | Health Risk | Pathogenic | — |
| RS745867840 | Health Risk | Pathogenic | — |
| RS747150601 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS752130338 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS752417487 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS753254213 | Health Risk | Pathogenic | Global developmental delay, Possible mitochondrial disorder - nuclear genes, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS754586499 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS755058452 | Health Risk | Pathogenic | — |
| RS756503892 | Health Risk | Pathogenic | — |
| RS756589820 | Health Risk | Pathogenic | — |
| RS764847439 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS771578775 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS774353934 | Health Risk | Pathogenic | — |
| RS778247643 | Health Risk | Pathogenic | — |
| RS781548895 | Health Risk | Pathogenic | — |
| RS797045217 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS974677376 | Health Risk | Pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS140246430 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Inborn genetic diseases, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS199874519 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Autosomal recessive ataxia due to ubiquinone deficiency, Familial cancer of breast |
| RS201908721 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency |
| RS2528412329 | Health Risk | Pathogenic/Likely pathogenic | — |