TUFM
Chr 16ARTu translation elongation factor, mitochondrial
Also known as: COXPD4, EF-TuMT, EFTU, P43
This gene encodes a mitochondrial elongation factor that facilitates protein synthesis within mitochondria by promoting translocation of aminoacyl-tRNA during translation. Mutations cause combined oxidative phosphorylation deficiency 4, an autosomal recessive disorder characterized by lactic acidosis and fatal encephalopathy due to impaired mitochondrial respiratory chain function. The pathogenic mechanism involves dominant-negative effects where mutant proteins interfere with normal mitochondrial protein synthesis.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
398 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 1 | 105 | 0 | 108 |
Likely Pathogenic | 0 | 3 | 10 | 0 | 13 |
VUS | 2 | 86 | 57 | 3 | 148 |
Likely Benign | 0 | 1 | 44 | 42 | 87 |
Benign | 0 | 0 | 9 | 1 | 10 |
Conflicting | — | 21 | |||
| Total | 4 | 91 | 225 | 46 | 387 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TUFM · 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