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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: EF-Tu; Elongation factor Tu, mitochondrial; P43
Gene Aliases: COXPD4; EF-TuMT; EFTU; P43; TUFM
UniProt ID: (Human) P49411
Entrez Gene ID: (Human) 7284
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