TOMM20
Chr 1translocase of outer mitochondrial membrane 20
Also known as: MAS20, MOM19, TOM20
TOMM20 encodes a central receptor component of the translocase of the outer mitochondrial membrane (TOM) complex that recognizes and translocates cytosolically synthesized mitochondrial preproteins across the outer mitochondrial membrane. Mutations cause autosomal recessive mitochondrial complex V deficiency with early-onset encephalomyopathy, cardiomyopathy, and growth retardation. The gene shows tolerance to loss-of-function variants (pLI 0.03, LOEUF 0.94), suggesting that complete loss of function may be required for disease manifestation.
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
TOMM20 · 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
External Resources
Links to major genomics databases and tools