TIMM22
Chr 17ARtranslocase of inner mitochondrial membrane 22
Also known as: COXPD43, TEX4, TIM22
The protein is an essential core component of the TIM22 complex that forms a voltage-activated channel mediating import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. Mutations cause combined oxidative phosphorylation deficiency 43, inherited in an autosomal recessive pattern. This gene appears to be tolerant to loss-of-function variants in the general population based on constraint metrics.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TIMM22 · 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