MTFMT: Mitochondrial Methionyl-tRNA Formyltransferase
A nuclear gene encoding a mitochondrial enzyme essential for mitochondrial translation and energy metabolism.
Gene Information Card
| Symbol | MTFMT |
|---|---|
| Full Name | mitochondrial methionyl-tRNA formyltransferase |
| Gene Type | protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 123263 ncbi.nlm.nih.gov/gene/123263 |
| Ensembl ID | ENSG00000103723 |
| UniProt ID | Q96DP5 |
| OMIM ID | 611766 |
| HGNC ID | 25277 |
| Aliases | COXPD15, FMT, MST-027, MSTP027 |
Description
MTFMT encodes the mitochondrial methionyl-tRNA formyltransferase, which catalyzes the formylation of methionyl-tRNA in mitochondria. This modification is essential for initiation of mitochondrial translation. Mutations in MTFMT cause combined oxidative phosphorylation deficiency 15 (COXPD15), a mitochondrial disorder characterized by lactic acidosis, developmental delay, and neurological impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 15 (COXPD15) | Loss-of-function mutations impair formylation of mitochondrial Met-tRNA, reducing mitochondrial translation and ATP production. | OMIM #614947; ClinVar; PMID: 21817111 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 7.5 | Medium |
| Brain | 6.9 | Medium |
| Skeletal Muscle | 6.1 | Medium |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.4 | Cervical carcinoma |
| HEK293 | 8.7 | Embryonic kidney |
| K562 | 7.2 | Leukemia |
| HepG2 | 6.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.626C>T (p.Ser209Leu) | Missense | Found in COXPD15 patients | Reduces enzyme activity and mitochondrial translation |
| c.766C>T (p.Arg256*) | Nonsense | Rare | Premature truncation, loss of function |
| c.331G>A (p.Gly111Arg) | Missense | Reported in COXPD15 | Impaired formylation activity |
Mutation functional classification
Loss of Function (LOF)
Most MTFMT mutations are loss-of-function, reducing or abolishing formyltransferase activity, leading to impaired mitochondrial translation and oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; MTFMT deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • methionyl-tRNA formyltransferase activity (GO:0004479) | • mitochondrion (GO:0005739) |
| • mitochondrial translational initiation (GO:0070124) | • translation (GO:0006412) |
| • ATP binding (GO:0005524) |
Pathways
• Mitochondrial translation initiation (Reactome: R-HSA-5389840)
• Mitochondrial tRNA aminoacylation (Reactome: R-HSA-379716)
Protein Summary
MTFMT is a 390-amino acid mitochondrial matrix protein that catalyzes the formylation of methionyl-tRNA using 10-formyltetrahydrofolate as a formyl donor. This modification is required for efficient initiation of mitochondrial protein synthesis. The protein contains a formyltransferase domain and is essential for the assembly of mitochondrial respiratory chain complexes. Deficiency leads to combined oxidative phosphorylation deficiency 15.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTFMT Knockout HEK293 Cell Line | EDJ-KQ8176 | Human | 123263 | Details Get a Quote |
| MTFMT Knockout A-549 Cell Line | EDJ-KQ34090 | Human | 123263 | Details Get a Quote |
| MTFMT Knockout HCT 116 Cell Line | EDJ-KQ34091 | Human | 123263 | Details Get a Quote |
| MTFMT Knockout HeLa Cell Line | EDJ-KQ32758 | Human | 123263 | Details Get a Quote |
