Aliases for EIF2B1 Gene
- Eukaryotic Translation Initiation Factor 2B Subunit Alpha 2 3 5
- Eukaryotic Translation Initiation Factor 2B, Subunit 1 Alpha, 26kDa 2 3
- EIF-2B GDP-GTP Exchange Factor Subunit Alpha 3 4
- EIF2BA 3 4
- Eukaryotic Translation Initiation Factor 2B, Subunit 1 (Alpha, 26kD) 2
- Translation Initiation Factor EIF-2B Subunit Alpha 3
- EIF2B 3
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 Eif2b1-Related Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter. Among its related pathways are NFAT and Cardiac Hypertrophy and Translation Insulin regulation of translation. GO annotations related to this gene include GTP binding and translation initiation factor activity.
UniProtKB/Swiss-Prot for EIF2B1 Gene
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.