GUF1 gene

GUF1 homolog, GTPase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 40

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12

Molecular Location: base pairs 44,678,395 to 44,700,685 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p12, which is the short (p) arm of chromosome 4 at position 12
  • EF-4
  • EF4
  • EIEE40