Gene Symbol | TUFM |
Entrez Gene ID | 7284 |
Full Name | Tu translation elongation factor, mitochondrial |
Synonyms | COXPD4,EF-TuMT,EFTU,P43 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 4, 610678 (3) |