Gene Symbol | PDSS1 |
Entrez Gene ID | 23590 |
Full Name | decaprenyl diphosphate synthase subunit 1 |
Synonyms | COQ1,COQ10D2,DPS,SPS,TPRT,TPT,TPT 1,hDPS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Coenzyme Q10 deficiency, primary, 2, 614651 (3) |