COX15
Chr 10ARcytochrome c oxidase assembly factor COX15
Also known as: CEMCOX2, HAS, MC4DN6
The protein functions in the biogenesis of cytochrome c oxidase (complex IV) and is involved in the hydroxylation of heme O, which is essential for proper assembly of this terminal component of the mitochondrial respiratory chain. Mutations cause mitochondrial complex IV deficiency through an autosomal recessive inheritance pattern, resulting in impaired cellular respiration. The pathogenic mechanism involves loss of function leading to defective complex IV assembly and subsequent mitochondrial dysfunction.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
COX15 · 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