TOMM22
Chr 22translocase of outer mitochondrial membrane 22
Also known as: 1C9-2, MST065, MSTP065, TOM22
The encoded protein is a central receptor component of the translocase of the outer mitochondrial membrane (TOM) complex that recognizes and translocates cytosolic mitochondrial preproteins across the outer mitochondrial membrane. Mutations cause autosomal recessive mitochondrial complex assembly factor deficiency, presenting as early-onset mitochondrial disease affecting multiple organ systems. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.66), consistent with its essential role in mitochondrial protein import.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TOMM22 · 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