PDSS2 Chromosome 6
Decaprenyl diphosphate synthase subunit 2
Upload your DNA to see your personal genotypes for variants in PDSS2.
What This Gene Does
The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
Associated Conditions (11)
Coenzyme Q10 deficiency
primary
3
Nephrotic syndrome
Inborn genetic diseases
Focal segmental glomerulosclerosis
Malignant tumor of esophagus
Hepatocellular carcinoma
Gastric cancer
PDSS2-related disorder
Kidney disorder
Key Variants
RS118203956
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS143549737
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS144461244
Conflicting classifications of pathogenicity
Health Risk
RS17853951
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS192206443
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis, Malignant tumor of esophagus, Hepatocellular carcinoma
Health Risk
RS201388841
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS201622517
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS35555197
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS370370070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Coenzyme Q10 deficiency, primary
Health Risk
RS372737420
Conflicting classifications of pathogenicity
Coenzyme Q10 deficiency, primary, 3
Health Risk
RS755671694
Conflicting classifications of pathogenicity
Health Risk
RS1782160930
Likely pathogenic
Coenzyme Q10 deficiency, primary, 3
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118203956 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS143549737 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS144461244 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS17853951 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS192206443 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, Malignant tumor of esophagus, Hepatocellular carcinoma |
| RS201388841 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS201622517 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS35555197 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS370370070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Coenzyme Q10 deficiency, primary |
| RS372737420 | Health Risk | Conflicting classifications of pathogenicity | Coenzyme Q10 deficiency, primary, 3 |
| RS755671694 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1782160930 | Health Risk | Likely pathogenic | Coenzyme Q10 deficiency, primary, 3 |
| RS863224167 | Health Risk | Likely pathogenic | — |
| RS118203955 | Health Risk | Pathogenic | Coenzyme Q10 deficiency, primary, 3 |
| RS863224166 | Health Risk | Pathogenic | — |