PDSS2

PDSS2 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.

Full Name

Decaprenyl Diphosphate Synthase Subunit 2

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).

Biological Process

Cerebellum developmentISS:UniProtKB
Isoprenoid biosynthetic processManual Assertion Based On ExperimentIDA:HGNC-UCL
Regulation of body fluid levelsIEA:Ensembl
Ubiquinone biosynthetic processManual Assertion Based On ExperimentIDA:HGNC-UCL

Cellular Location

Mitochondrion

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.