Description
Product Characteristics: 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.,TUFM,COXPD4,EF-TuMT,EFTU,P43,Epigenetics & Nuclear Signaling,RNA Binding,Endocrine & Metabolism,Mitochondrial metabolism,TUFM
Target Information: 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]