Aliases for TSFM Gene
External Ids for TSFM Gene
Previous GeneCards Identifiers for TSFM Gene
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
GeneCards Summary for TSFM Gene
TSFM (Ts Translation Elongation Factor, Mitochondrial) is a Protein Coding gene. Diseases associated with TSFM include Combined Oxidative Phosphorylation Deficiency 3 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include translation elongation factor activity.
UniProtKB/Swiss-Prot Summary for TSFM Gene
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.