PET117
Chr 20PET117 cytochrome c oxidase chaperone
Also known as: CSRP2BP, MC4DN19
Predicted to be involved in mitochondrial respiratory chain complex IV assembly. Located in mitochondrion. Implicated in mitochondrial complex IV deficiency nuclear type 19. [provided by Alliance of Genome Resources, Jun 2026]
Primary Disease Associations & Inheritance
Clinical highlights
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
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PET117 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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