TIMM50
Chr 19ARtranslocase of inner mitochondrial membrane 50
Also known as: MGCA9, TIM50, TIM50L
This protein is an essential component of the TIM23 complex that translocates proteins across the mitochondrial inner membrane by recognizing mitochondrial targeting signals on incoming proteins. Mutations cause 3-methylglutaconic aciduria type IX with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.646), consistent with mitochondrial dysfunction when both copies are disrupted.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TIMM50 · 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