This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter.
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Protein Aliases: HJCYS; hN2; Motch B; N2ECD; N2ICD; Neurogenic locus notch homolog protein 2; Notch 2; Notch 2 extracellular truncation; Notch 2 intracellular domain; Notch gene homolog 2; Notch homolog 2
Gene Aliases: AGS2; AI853703; HJCYS; hN2; N2; NOTCH2