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. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. GO annotations related to this gene include poly(A) RNA binding and GTPase 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