TSFM
Chr 12ARTs translation elongation factor, mitochondrial
Also known as: EFTS, EFTSMT
The protein catalyzes guanine nucleotide exchange on elongation factor Tu during mitochondrial protein translation. Mutations cause combined oxidative phosphorylation deficiency 3, an autosomal recessive disorder resulting from impaired mitochondrial protein synthesis. The pathogenic mechanism involves defective mitochondrial translation elongation leading to reduced oxidative phosphorylation complex function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TSFM · 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