TUFM
MIM.602389 16q11.2
EFTu
Mitochondrial elongation factor Tu (EF-TuMT, or TUFM) is encoded in the nucleus and functions in the translational apparatus of mitochondria.
Pathology
germline mutations of mitochondrial elongation factor EFTu with defective mitochondrial DNA translation in infantile encephalopathy (17160893)
References
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. PMID: 17160893