COQ8A (Q8NI60) variants and mutations

COQ8A (also known as Q8NI60) is a human protein-coding gene encoding an atypical kinase COQ8A, mitochondrial protein. It supports coenzyme Q biosynthesis and mitochondrial respiratory function, particularly in neurons and cerebellar tissue. Biallelic pathogenic variants cause primary coenzyme Q10 deficiency with cerebellar ataxia and variable seizures, neuropathy, or developmental impairment. This analysis covers 1,263 COQ8A variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes autosomal recessive ataxia due to ubiquinone deficiency, coenzyme Q10 deficiency, and coenzyme Q10 deficiency, primary, 1. Example COQ8A variants include A2D, A2P, and A2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable COQ8A variants

Examples include A2D, A2P, A2S, A3V, A3G, A3A, I4K, I4M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.