PDSS1 gene

prenyl (decaprenyl) diphosphate synthase, subunit 1

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 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]

From UniProt:

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

From NCBI Gene:

  • Coenzyme Q10 deficiency, primary, 2

From UniProt:

Coenzyme Q10 deficiency, primary, 2 (COQ10D2): An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. [MIM:614651]

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1

Molecular Location: base pairs 26,697,052 to 26,746,798 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1
  • COQ1
  • COQ10D2
  • DPS
  • hDPS1
  • SPS
  • TPRT
  • TPT
  • TPT 1