Eukaryotic Translation Initiation Factor 2b Subunit 1 Alpha (EIF2B1) Human Recombinant Protein

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]

eIF2B-alpha: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. Defects in EIF2B1 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 alpha/beta/delta subunits family.

Protein type: Translation initiation; Translation

Chromosomal Location of Human Ortholog: 12q24.31

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

Molecular Function: protein binding; GDP binding; GTP binding; translation initiation factor activity; guanyl-nucleotide exchange factor activity; S-methyl-5-thioribose-1-phosphate isomerase activity; enzyme regulator activity

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

Disease: Leukoencephalopathy With Vanishing White Matter