TUFM Antibody (C-Term) Blocking Peptide

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]

EFTU: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Defects in TUFM are the cause of combined oxidative phosphorylation deficiency type 4 (COXPD4). 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. Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily.

Protein type: Translation; RNA-binding; Mitochondrial; Translation elongation

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: membrane; mitochondrion

Molecular Function: GTPase activity; protein binding; translation elongation factor activity

Biological Process: translational elongation

Disease: Combined Oxidative Phosphorylation Deficiency 4