COQ6 Chromosome 14
Coenzyme Q6, monooxygenase
Upload your DNA to see your personal genotypes for variants in COQ6.
What This Gene Does
The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
14q24.3
Ensembl
ENSG00000119723
Associated Conditions (11)
Inborn genetic diseases
COQ6-related disorder
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Lung cancer
Clear cell carcinoma of kidney
Sarcoma
Uterine carcinosarcoma
Thyroid cancer
nonmedullary
1
Familial cancer of breast
Key Variants
RS1173142007
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139010315
Conflicting classifications of pathogenicity
COQ6-related disorder, COQ6-related disorder
Health Risk
RS139341447
Conflicting classifications of pathogenicity
Familial steroid-resistant nephrotic syndrome with sensorineural deafness, COQ6-related disorder, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Health Risk
RS144880038
Conflicting classifications of pathogenicity
COQ6-related disorder, COQ6-related disorder
Health Risk
RS148540645
Conflicting classifications of pathogenicity
Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Health Risk
RS150313058
Conflicting classifications of pathogenicity
Health Risk
RS201706177
Conflicting classifications of pathogenicity
Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Health Risk
RS369230323
Conflicting classifications of pathogenicity
Health Risk
RS45496292
Conflicting classifications of pathogenicity
COQ6-related disorder, Lung cancer, Clear cell carcinoma of kidney
Health Risk
RS564107029
Conflicting classifications of pathogenicity
Health Risk
RS750043999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases
Health Risk
RS753489572
Conflicting classifications of pathogenicity
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1173142007 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139010315 | Health Risk | Conflicting classifications of pathogenicity | COQ6-related disorder, COQ6-related disorder |
| RS139341447 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, COQ6-related disorder, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS144880038 | Health Risk | Conflicting classifications of pathogenicity | COQ6-related disorder, COQ6-related disorder |
| RS148540645 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS150313058 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201706177 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS369230323 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS45496292 | Health Risk | Conflicting classifications of pathogenicity | COQ6-related disorder, Lung cancer, Clear cell carcinoma of kidney |
| RS564107029 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750043999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases |
| RS753489572 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766136714 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS767117446 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS778856227 | Health Risk | Conflicting classifications of pathogenicity | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS186291107 | Health Risk | Likely pathogenic | — |
| RS367817034 | Health Risk | Likely pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS376432164 | Health Risk | Likely pathogenic | — |
| RS1057519349 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS1057519350 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS1057519351 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS1555358729 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS1594816203 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS189840848 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS2140404268 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS2140404355 | Health Risk | Pathogenic | — |
| RS2140404882 | Health Risk | Pathogenic | — |
| RS2502957637 | Health Risk | Pathogenic | — |
| RS2502985399 | Health Risk | Pathogenic | — |
| RS2503019280 | Health Risk | Pathogenic | — |
| RS2503076688 | Health Risk | Pathogenic | — |
| RS371260604 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS397514479 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS746839544 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS768167170 | Health Risk | Pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS1064796212 | Health Risk | Pathogenic/Likely pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS376848848 | Health Risk | Pathogenic/Likely pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial cancer of breast, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS559873718 | Health Risk | Pathogenic/Likely pathogenic | Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |