GFM2
Chr 5ARGTP dependent ribosome recycling factor mitochondrial 2
Also known as: EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF, RRF2, RRF2mt
This gene encodes a mitochondrial translation elongation factor that functions as a GTPase to mediate ribosome disassembly from mRNA during termination of mitochondrial protein synthesis. Biallelic mutations cause combined oxidative phosphorylation deficiency 39, inherited in an autosomal recessive pattern. The pathogenic mechanism involves impaired mitochondrial translation leading to respiratory chain dysfunction and defective maintenance of mitochondrial DNA.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
GFM2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools