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]
Function:
DPS1 is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. It 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. There are three named isoforms.
Subunit:
Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits.
Subcellular Location:
Mitochondrial and Plasma membrane
DISEASE:
Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]: An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the FPP/GGPP synthase family.
SWISS:
Q5T2R2
Gene ID:
23590
Database links:
Entrez Gene: 23590 Human
Entrez Gene: 56075 Mouse
Omim: 607429 Human
SwissProt: Q5T2R2 Human
SwissProt: Q33DR2 Mouse
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