COX16
Chr 14ARcytochrome c oxidase assembly factor COX16
Also known as: C14orf112, HSPC203, MC4DN22, hCOX16
COX16 encodes a protein required for assembly of mitochondrial respiratory chain complex IV (cytochrome c oxidase), specifically promoting copper insertion into cytochrome c oxidase subunit II and facilitating merging of assembly intermediates. Mutations cause mitochondrial complex IV deficiency, nuclear type 22, which follows autosomal recessive inheritance. This gene appears relatively tolerant to loss-of-function variants based on constraint metrics.
Moderate evidence — consider for supplementary testing
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
COX16 · 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