EIF2B3 Antibody – Mouse Monoclonal

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]

eIF2B-gamma: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. Defects in EIF2B3 are a cause of leukodystrophy with vanishing white matter (VWM). VWM is a leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. Belongs to the eIF-2B gamma/epsilon subunits family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Translation initiation; Translation

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: eukaryotic translation initiation factor 2B complex; cytoplasm; cytosol

Molecular Function: protein binding; translation factor activity, nucleic acid binding; guanyl-nucleotide exchange factor activity; translation initiation factor activity; nucleotidyltransferase activity

Biological Process: response to peptide hormone stimulus; cellular protein metabolic process; translation; response to heat; translational initiation; response to glucose stimulus; negative regulation of translation initiation in response to stress; cellular response to stimulus; gene expression; oligodendrocyte development; positive regulation of GTPase activity

Disease: Leukoencephalopathy With Vanishing White Matter