PDSS1 Chromosome 10
Decaprenyl diphosphate synthase subunit 1
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What This Gene Does
The protein encoded by this gene is an enzyme that elongates 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. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
PDSS1-related disorder
Inborn genetic diseases
Key Variants
RS115687408
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS116148064
Conflicting classifications of pathogenicity
Health Risk
RS116424900
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, PDSS1-related disorder, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS141586424
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS142182789
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS145758711
Conflicting classifications of pathogenicity
Health Risk
RS1834915615
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS202187965
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS367942639
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS551306397
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS747850974
Conflicting classifications of pathogenicity
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Health Risk
RS749721462
Conflicting classifications of pathogenicity
Inborn genetic diseases, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Inborn genetic diseases
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115687408 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS116148064 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS116424900 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, PDSS1-related disorder, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS141586424 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS142182789 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS145758711 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1834915615 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS202187965 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS367942639 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS551306397 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS747850974 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS749721462 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Inborn genetic diseases |
| RS753411855 | Health Risk | Conflicting classifications of pathogenicity | PDSS1-related disorder, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, PDSS1-related disorder |
| RS754552333 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS759788602 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS762902803 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS763915931 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Inborn genetic diseases, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS766969099 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS776345851 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS776786172 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779303490 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS886046932 | Health Risk | Conflicting classifications of pathogenicity | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS1232289653 | Health Risk | Likely pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS1835152848 | Health Risk | Likely pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS2132231934 | Health Risk | Likely pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS767499454 | Health Risk | Likely pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS863224162 | Health Risk | Likely pathogenic | — |
| RS1057519354 | Health Risk | Pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS119463988 | Health Risk | Pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS1278404579 | Health Risk | Pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS1425736863 | Health Risk | Pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS2491583718 | Health Risk | Pathogenic | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| RS863224163 | Health Risk | Pathogenic | — |