PET100
Chr 19ARPET100 cytochrome c oxidase chaperone
Also known as: C19orf79, MC4DN12
PET100 encodes a small protein essential for the maturation and assembly of mitochondrial complex IV (cytochrome c oxidase), which is part of the respiratory electron transport chain. Mutations cause mitochondrial complex IV deficiency with autosomal recessive inheritance, resulting in a mitochondrial respiratory chain disorder. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.
Moderate evidence — consider for supplementary testing
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
PET100 · 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