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This gene encodes one of five subunits of eukaryotic translation initiation factor 2B, 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.
C81315; CACH; CLE; EIF-2B; eIF-2B GDP-GTP exchange factor subunit epsilon; EIF2B5; EIF2BE; EIF2Bepsilon; eukaryotic translation initiation factor 2B subunit epsilon; eukaryotic translation initiation factor 2B, subunit 5 epsilon; eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa; initiation factor eIF-2Be; LVWM; Translation initiation factor eIF-2B subunit epsilon
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