Aliases for TUFM Gene
External Ids for TUFM Gene
Previous GeneCards Identifiers for TUFM Gene
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
GeneCards Summary for TUFM Gene
TUFM (Tu Translation Elongation Factor, Mitochondrial) is a Protein Coding gene. Diseases associated with TUFM include combined oxidative phosphorylation deficiency 4 and combined oxidative phosphorylation deficiency. GO annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is EEFSEC.
UniProtKB/Swiss-Prot for TUFM Gene
This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis