Aliases for EIF2B3 Gene
External Ids for EIF2B3 Gene
Previous GeneCards Identifiers for EIF2B3 Gene
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for EIF2B3 Gene
EIF2B3 (Eukaryotic Translation Initiation Factor 2B, Subunit 3 Gamma, 58kDa) is a Protein Coding gene. Diseases associated with EIF2B3 include eif2b3-related childhood ataxia with central nervous system hypomyelination/vanishing white matter and late infantile cach syndrome. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and nucleotidyltransferase activity.
UniProtKB/Swiss-Prot for EIF2B3 Gene
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP