COQ2

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]

Description

Coenzyme Q2, polyprenyltransferase

Tissue specificity

Tissue enhanced (tongue)

Subcell location

Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins

Chromosome

4 (83261536 - 83284914)

Ensembl ID

ENSG00000173085  (ver. 103.38)

Orthologs

Mouse Coq2: ENSMUSG00000029319

UniProt

Q96H96

neXtProt

NX_Q96H96

Human splice variants
Mouse splice variants

Protein structure