Gene: PDSS2

Alternate names for this Gene: C6orf210|COQ10D3|COQ1B|DLP1|bA59I9.3|hDLP1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: decaprenyl diphosphate synthase subunit 2

Type of Gene: protein-coding

rs118203955 in PDSS2 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 3 PMID 17374725 2007 Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

rs59490629 in PDSS2 gene and Calcification of coronary artery PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs9486594 in PDSS2 gene and Chronic Obstructive Airway Disease PMID 25514360 2015 Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.

rs59490629 in PDSS2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs61315837 in PDSS2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs7772518 in PDSS2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.