COQ2
Chr 4coenzyme Q2, polyprenyltransferase
Also known as: CL640, COQ10D1, MSA1, PHB:PPT
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.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COQ2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools