TSFM: Mitochondrial Translation Elongation Factor
Essential for mitochondrial protein synthesis and oxidative phosphorylation
Gene Information Card
| Symbol | TSFM |
|---|---|
| Full Name | Ts translation elongation factor, mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 12q14.1 |
| NCBI Gene ID | 10102 ncbi.nlm.nih.gov/gene/10102 |
| Ensembl ID | ENSG00000123297 |
| UniProt ID | P43897 |
| OMIM ID | 604723 |
| HGNC ID | 12367 |
| Aliases | EF-Ts, EFTS, COXPD3 |
Description
The TSFM gene encodes the mitochondrial translation elongation factor Ts (EF-Ts), a guanine nucleotide exchange factor essential for mitochondrial protein synthesis. EF-Ts recycles mitochondrial elongation factor Tu (EF-Tu) by exchanging GDP for GTP, enabling the delivery of aminoacyl-tRNAs to the ribosome. This process is critical for the synthesis of 13 subunits of the oxidative phosphorylation (OXPHOS) complexes encoded by mitochondrial DNA. Mutations in TSFM impair mitochondrial translation, leading to combined OXPHOS deficiency and multisystem disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 3 (COXPD3) | Loss-of-function mutations in TSFM reduce mitochondrial translation, causing deficiency of multiple OXPHOS complexes (I, III, IV, V) | ClinVar, OMIM #610505 |
| Leigh syndrome | Severe TSFM mutations disrupt mitochondrial energy production, leading to neurodegeneration and lactic acidosis | OMIM #256000, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Low |
| Brain | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.1 | Cervical carcinoma cells |
| K562 | 9.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.997C>T (p.Arg333Trp) | Missense | Rare | Loss of function; reduced EF-Ts activity and mitochondrial translation |
| c.694C>T (p.Arg232*) | Nonsense | Rare | Premature stop; loss of protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most TSFM mutations are loss-of-function, reducing or abolishing EF-Ts activity, leading to impaired mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; TSFM mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • translation elongation factor activity (GO:0003746) | • GTP binding (GO:0005525) |
| • mitochondrion (GO:0005739) | • mitochondrial translation (GO:0032543) |
| • translational elongation (GO:0006414) |
Pathways
• Mitochondrial translation elongation (REACT: R-HSA-5389840)
• Oxidative phosphorylation (KEGG: hsa00190)
Protein Summary
TSFM encodes mitochondrial elongation factor Ts (EF-Ts), a 334-amino acid protein that forms a complex with EF-Tu to facilitate GTP exchange during mitochondrial translation. EF-Ts is essential for the elongation step of protein synthesis within mitochondria, enabling the production of key OXPHOS subunits. The protein localizes to the mitochondrial matrix and is ubiquitously expressed, with highest levels in tissues with high energy demand such as heart and skeletal muscle.
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