Summary
Performance
Immunogen
Application
Background
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],disease:Defects in TUFM are the cause of combined oxidative phosphorylation deficiency type 4 (COXPD4) [MIM:610678]. COXPD4 is characterized by neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.,function:This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.,similarity:Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily.,
Research Area
