PDSS2 gene

prenyl (decaprenyl) diphosphate synthase, subunit 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Coenzyme Q10 deficiency, primary, 3

From UniProt:

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. [MIM:614652]

Cytogenetic Location: 6q21, which is the long (q) arm of chromosome 6 at position 21

Molecular Location: base pairs 107,152,557 to 107,459,683 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q21, which is the long (q) arm of chromosome 6 at position 21
  • bA59I9.3
  • C6orf210
  • COQ10D3
  • DLP1
  • hDLP1