HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

COQ2 ( Human )

Entrez Gene 27235 entrezgene 27235
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coenzyme Q2, polyprenyltransferase

Alias

CL640 | COQ10D1 | MSA1 | PHB:PPT

This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009].