Aliases for GUF1 Gene
External Ids for GUF1 Gene
Previous GeneCards Identifiers for GUF1 Gene
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]
GeneCards Summary for GUF1 Gene
GUF1 (GUF1 Homolog, GTPase) is a Protein Coding gene. Diseases associated with GUF1 include Epileptic Encephalopathy, Early Infantile, 40 and West Syndrome. GO annotations related to this gene include GTP binding and ribosome binding.
UniProtKB/Swiss-Prot for GUF1 Gene
Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.