PDSS2
Function
Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity).
Involvement in disease
Coenzyme Q10 deficiency, primary, 3
COQ10D3
A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; ubiquinone biosynthesis.
Sequence Similarities
Belongs to the FPP/GGPP synthase family.
Cellular localization
- Mitochondrion
Alternative names
C6orf210, DLP1, PDSS2, All trans-polyprenyl-diphosphate synthase PDSS2, All-trans-decaprenyl-diphosphate synthase subunit 2, Candidate tumor suppressor protein, Decaprenyl pyrophosphate synthase subunit 2, Decaprenyl-diphosphate synthase subunit 2, Solanesyl-diphosphate synthase subunit 2