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The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN). [provided by RefSeq, Oct 2008]

Glycogen Synthase (GS) is a key enzyme in the regulation of glycogen metabolism. GS catalyzes the incorporation of UDP-glucose incorporation into glycogen. The activity of glycogen synthase is regulated by hormonal stimuli (insulin, catecholamines and glucagons) and non-hormonal stimuli (blood glucose level and exercise). Two main isoforms of mammalian GS are designated as muscle (glycogen synthase 1) and liver (glycogen synthase 2). Most tissues express glycogen synthase 1, whereas glycoge

This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

eIF4E, a protein modulates translation of maternal mRNAs in early embryos before the onset of zygotic transcription. eIF4E also influences the overall rate of translation. eIF4E binds to the 7 methyl GTP cap structure of eukaryotic mRNAs. Phosphorylation of eIF4E on serine 209 regulates the affinity of this protein for the 7 methyl GTP cap and/or RNA. Phosphorylation also enhances the interaction of eIF4E with eIF4G, which form a complex known as eIF4F. eIF4E phosphorylation is correlated with

p130 represents one of several known substrates for v-Crk encoded p47. p130 Cas (for Crk-associated substrate) exhibits a high level of tyrosine phosphorylation and is tightly associated with v-Crk, suggesting a role in v-Crk-mediated cell signaling. The molecular cloning of p130 Cas has shown it to represent a novel SH3 containing signaling molecule with a cluster of multiple putative SH2-binding motifs for v-Crk. By immunoprecipitation analysis, p130 Cas has been shown to be highly phosphory

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have be