TSFM
Function
Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.
Involvement in disease
Combined oxidative phosphorylation deficiency 3
COXPD3
A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EF-Ts family.
Tissue Specificity
Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney.
Cellular localization
- Mitochondrion
Alternative names
EF-Ts, EF-TsMt, TSFM