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: eIF-2B GDP-GTP exchange factor subunit alpha; eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kDa); eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa; Translation initiation factor eIF-2B subunit alpha
Gene Aliases: 26kDa; D5Ertd406e; EIF2B; EIF2B1; EIF2BA