COQ8A
Chr 1coenzyme Q8A
Also known as: ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
The protein functions as an atypical kinase essential for coenzyme Q (ubiquinone) biosynthesis, which is required for mitochondrial electron transport and aerobic cellular respiration. Mutations cause primary coenzyme Q10 deficiency type 4, inherited in an autosomal recessive pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal coenzyme Q biosynthesis.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 14 | 2 | 3 | 0 | 19 |
Likely Pathogenic | 13 | 8 | 0 | 0 | 21 |
VUS | 2 | 98 | 14 | 2 | 116 |
Likely Benign | 0 | 1 | 49 | 73 | 123 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 3 | |||
| Total | 29 | 109 | 69 | 75 | 285 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COQ8A · 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