COX10
Chr 17ARcytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Also known as: MC4DN3
The protein encodes heme A:farnesyltransferase, which is essential for the maturation of the heme A prosthetic group required for functional cytochrome c oxidase (complex IV) assembly. Biallelic mutations cause mitochondrial complex IV deficiency, nuclear type 3, inherited in an autosomal recessive pattern. The disease predominantly results from loss-of-function mutations that impair the enzyme's ability to process heme A, leading to defective complex IV assembly and mitochondrial respiratory chain dysfunction.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
490 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 | 0 | 4 | 105 | 0 | 109 |
Likely Pathogenic | 8 | 3 | 4 | 0 | 15 |
VUS | 1 | 138 | 42 | 3 | 184 |
Likely Benign | 0 | 6 | 43 | 50 | 99 |
Benign | 0 | 1 | 38 | 2 | 41 |
Conflicting | — | 28 | |||
| Total | 9 | 152 | 232 | 55 | 476 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COX10 · 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