Gene: PDSS1

Alternate names for this Gene: COQ1|COQ10D2|COQ1A|DPS|SPS|TPRT|TPT|TPT 1|hDPS1

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p12.1

Description of this Gene: decaprenyl diphosphate synthase subunit 1

Type of Gene: protein-coding

rs11015260 in PDSS1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1057519353 in PDSS1 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 2 PMID 22494076 2012 Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

rs11015260 in PDSS1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.