TUFM, Official Symbol TUFMprovided by HGNC Official Full Name Tu translation elongation factor, mitochondrialprovided by HGNC Primary source HGNC:HGNC:12420 See related Ensembl:ENSG00000178952 MIM:602389; AllianceGenome:HGNC:12420 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as P43; EFTU; COXPD4; EF-TuMT Summary 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] Expression Ubiquitous expression in kidney (RPKM 62.5), colon (RPKM 52.5) and 25 other tissues See more Orthologs mouse all