MTFMT
Chr 15ARmitochondrial methionyl-tRNA formyltransferase
Also known as: COXPD15, FMT1, MC1DN27
The protein catalyzes the formylation of methionyl-tRNA within mitochondria, a critical step in mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency 15 and mitochondrial complex I deficiency through autosomal recessive inheritance. The pathogenic mechanism involves de novo mutations that disrupt mitochondrial translation and respiratory chain function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
MTFMT · 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