COQ4
Chr 9ARcoenzyme Q4
Also known as: CGI-92, COQ10D7, SPAX10
The protein functions as a lyase that catalyzes C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid to 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis. Autosomal recessive mutations cause primary coenzyme Q10 deficiency type 7 and spastic ataxia 10 through disruption of the coenzyme Q10 biosynthetic pathway. Loss of function mutations result in cellular energy defects due to impaired mitochondrial electron transport chain function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COQ4 · 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