GFM1
Chr 3ARG elongation factor mitochondrial 1
Also known as: COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, mtEF-G1
The protein functions as a mitochondrial translation elongation factor essential for protein synthesis within mitochondria. Mutations cause combined oxidative phosphorylation deficiency 1, an autosomal recessive disorder resulting from impaired mitochondrial respiratory chain function. The pathogenic mechanism involves dominant-negative effects that disrupt normal mitochondrial protein translation.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GFM1 · 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