Gene Symbol | GUF1 |
Entrez Gene ID | 60558 |
Full Name | GUF1 homolog, GTPase |
Synonyms | EF-4,EF4,EIEE40 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. |
Disorder MIM: | |
Disorder Html: | ?Epileptic encephalopathy, early infantile, 40, 617065 (3) |