Aliases for EIF2B1 Gene
External Ids for EIF2B1 Gene
Previous HGNC Symbols for EIF2B1 Gene
Previous GeneCards Identifiers for EIF2B1 Gene
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. [provided by RefSeq, Oct 2009]
GeneCards Summary for EIF2B1 Gene
EIF2B1 (Eukaryotic Translation Initiation Factor 2B Subunit Alpha) is a Protein Coding gene. Diseases associated with EIF2B1 include Leukoencephalopathy With Vanishing White Matter and Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter. Among its related pathways are Beta-Adrenergic Signaling and Regulation of lipid metabolism Insulin signaling-generic cascades. Gene Ontology (GO) annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is EIF2B2.
UniProtKB/Swiss-Prot Summary for EIF2B1 Gene
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.