TUFM Gene: Tu Translation Elongation Factor, Mitochondrial
Essential mitochondrial translation factor linked to combined oxidative phosphorylation deficiency and encephalopathy
Gene Information Card
| Symbol | TUFM |
|---|---|
| Full Name | Tu translation elongation factor, mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 7284 ncbi.nlm.nih.gov/gene/7284 |
| Ensembl ID | ENSG00000178952 |
| UniProt ID | P49411 |
| OMIM ID | 602389 |
| HGNC ID | 12420 |
| Aliases | EF-Tu, COXPD4, EFTU, P43 |
Description
The TUFM gene encodes the mitochondrial elongation factor Tu (EF-Tu), a GTP-binding protein essential for mitochondrial translation. EF-Tu delivers aminoacyl-tRNAs to the ribosome during protein synthesis elongation. Mutations in TUFM cause combined oxidative phosphorylation deficiency type 4 (COXPD4), a severe multisystem disorder with encephalopathy, cardiomyopathy, and lactic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 4 (COXPD4) | Impaired mitochondrial translation due to defective EF-Tu leads to reduced synthesis of mtDNA-encoded respiratory chain subunits, causing OXPHOS deficiency. | OMIM #610678; Valente et al., 2007, Am J Hum Genet |
| Leigh syndrome | TUFM mutations can present with Leigh-like neuropathology, including bilateral basal ganglia lesions and progressive encephalopathy. | Case reports in ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.5 | Medium |
| Skeletal muscle | 7.2 | Low |
| Kidney | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | High expression in cervical cancer line |
| HEK293 | 13.2 | High expression in embryonic kidney cells |
| SH-SY5Y | 11.0 | Medium expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.694C>T (p.Arg232Trp) | Missense | Rare | Loss of GTP binding and reduced mitochondrial translation |
| c.1048G>A (p.Glu350Lys) | Missense | Rare | Impaired tRNA binding, severe COXPD4 phenotype |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most TUFM mutations are loss-of-function, reducing mitochondrial translation and OXPHOS complex assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • translation elongation factor activity |
| • mitochondrial translation | • mitochondrion |
| • ribosome |
Pathways
• Mitochondrial translation elongation
• Respiratory electron transport chain (indirect)
Protein Summary
TUFM encodes mitochondrial elongation factor Tu (EF-Tu), a 452-amino acid protein that binds GTP and aminoacyl-tRNAs, delivering them to the mitochondrial ribosome. It is essential for the elongation step of mitochondrial protein synthesis. Defects cause combined oxidative phosphorylation deficiency, leading to early-onset encephalopathy, lactic acidosis, and often fatal outcome.
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