GTP binding elongation factor GUF1 (GUF1)

GTP binding elongation factor GUF1 (GUF1) is a highly conserved mitochondrial GTPase that acts as a fidelity factor during mitochondrial protein synthesis[1][5][6]. GUF1 binds to mitochondrial ribosomes in a GTP-dependent manner and catalyzes the backward translocation of tRNAs on the ribosome, helping to prevent amino acid misincorporation, especially under stressful or suboptimal conditions[1][4][5]. It possesses unique C-terminal domains crucial for tRNA interaction, which distinguishes it from other GTPases[1]. The gene is most highly expressed in the brain, with lower expression in the pancreas, and alternative splicing yields several transcript variants[1]. Mutations in GUF1 are associated with developmental and epileptic encephalopathy 40 (EIEE40), a severe neurodevelopmental disorder, implicating its essential role in mitochondrial function and neuronal health[5]. While not currently an established therapeutic target, GUF1 dysfunction is linked to neurological and possibly metabolic diseases[2][1][5].

Other names

Translation factor GUF1, mitochondrialEF-4EF4GUF1 homologGTPase GUF1Ribosomal back-translocaseDEE40EIEE40GTP-binding protein GUF1 homologGTPase of unknown function 1