COQ2

Chr 4ADAR

coenzyme Q2, polyprenyltransferase

Also known as: CL640, COQ10D1, MSA1, PHB:PPT

NCBI Gene: 27235 ENSG00000173085 UniProt: Q96H96 OMIM: 609825

COQ2 encodes an enzyme that catalyzes the prenylation of para-hydroxybenzoate in the biosynthesis of coenzyme Q10, which functions as an electron carrier in the mitochondrial respiratory chain and as a lipid-soluble antioxidant. Mutations cause primary coenzyme Q10 deficiency, a mitochondrial disorder that can present as encephalomyopathy or nephropathy with primary renal involvement. The gene shows both autosomal recessive and autosomal dominant inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Multiple system atrophy, susceptibility to}MIM #146500

ADAR

Coenzyme Q10 deficiency, primary, 1MIM #607426

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

LOF

Mechanism· G2P

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GeneReview available — COQ2