COQ2 Chromosome 4
Coenzyme Q2, polyprenyltransferase
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What This Gene Does
This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
Associated Conditions (13)
Coenzyme Q10 deficiency
primary
1
Nephrotic syndrome
Inborn genetic diseases
COQ2-related disorder
Multiple system atrophy 1
susceptibility to
Focal segmental glomerulosclerosis
Multiple system atrophy
Uterine corpus endometrial carcinoma
Kidney disorder
Neonatal encephalopathy
Key Variants
RS121918232
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 1
Health Risk
RS1418018696
Conflicting classifications of pathogenicity
COQ2-related disorder, Coenzyme Q10 deficiency, primary
Health Risk
RS2529753155
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 1
Health Risk
RS368891722
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coenzyme Q10 deficiency, primary
Health Risk
RS374567167
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 1
Health Risk
RS375066516
Conflicting classifications of pathogenicity
Health Risk
RS375934957
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
Health Risk
RS550949678
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 1
Health Risk
RS555411841
Conflicting classifications of pathogenicity
COQ2-related disorder, COQ2-related disorder
Health Risk
RS571560082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coenzyme Q10 deficiency, primary
Health Risk
RS6535454
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 1
Health Risk
RS745619253
Conflicting classifications of pathogenicity
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918232 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS1418018696 | Health Risk | Conflicting classifications of pathogenicity | COQ2-related disorder, Coenzyme Q10 deficiency, primary |
| RS2529753155 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS368891722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Coenzyme Q10 deficiency, primary |
| RS374567167 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS375066516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375934957 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis |
| RS550949678 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS555411841 | Health Risk | Conflicting classifications of pathogenicity | COQ2-related disorder, COQ2-related disorder |
| RS571560082 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Coenzyme Q10 deficiency, primary |
| RS6535454 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS745619253 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752363398 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS759310292 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS761785906 | Health Risk | Conflicting classifications of pathogenicity | Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency |
| RS766511848 | Health Risk | Conflicting classifications of pathogenicity | Multiple system atrophy 1, susceptibility to, Coenzyme Q10 deficiency |
| RS767298430 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, Inborn genetic diseases, Coenzyme Q10 deficiency |
| RS767624218 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS774220803 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776701765 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 1 |
| RS778094136 | Health Risk | Conflicting classifications of pathogenicity | Multiple system atrophy, Coenzyme Q10 deficiency, primary |
| RS778586293 | Health Risk | Conflicting classifications of pathogenicity | COQ2-related disorder, COQ2-related disorder |
| RS779191310 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, Kidney disorder |
| RS781515818 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519348 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, Multiple system atrophy 1, susceptibility to |
| RS1169311005 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS1198292264 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS121918230 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS1348127604 | Health Risk | Likely pathogenic | — |
| RS1397203669 | Health Risk | Likely pathogenic | — |
| RS1397649685 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS1553915525 | Health Risk | Likely pathogenic | — |
| RS1577993720 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS2126175345 | Health Risk | Likely pathogenic | — |
| RS2126177139 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS2529756208 | Health Risk | Likely pathogenic | — |
| RS2529761222 | Health Risk | Likely pathogenic | Multiple system atrophy 1, susceptibility to, Multiple system atrophy 1 |
| RS769463299 | Health Risk | Likely pathogenic | — |
| RS937215195 | Health Risk | Likely pathogenic | — |
| RS121918233 | Health Risk | Pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS1458437821 | Health Risk | Pathogenic | — |
| RS1735008495 | Health Risk | Pathogenic | Multiple system atrophy, Multiple system atrophy |
| RS2126175406 | Health Risk | Pathogenic | — |
| RS2529759017 | Health Risk | Pathogenic | — |
| RS763059203 | Health Risk | Pathogenic | — |
| RS863223936 | Health Risk | Pathogenic | — |
| RS121918231 | Health Risk | Pathogenic/Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS1734860676 | Health Risk | Pathogenic/Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS750710187 | Health Risk | Pathogenic/Likely pathogenic | Coenzyme Q10 deficiency, primary, 1 |
| RS867410805 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalopathy, Neonatal encephalopathy |