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eIF2B-delta Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. Defects in EIF2B4 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; Translation; Translation initiation
Chromosomal Location of Human Ortholog: 2p23.3
Cellular Component: cytoplasm; cytosol; eukaryotic translation initiation factor 2B complex
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; translation initiation factor activity; translation initiation factor binding
Biological Process: cellular response to stimulus; myelination; negative regulation of translation initiation in response to stress; oligodendrocyte development; ovarian follicle development; response to glucose stimulus; response to heat; response to peptide hormone stimulus; translational initiation
Disease: Leukoencephalopathy With Vanishing White Matter
Reference #:  Q9UI10 (UniProtKB)
Alt. Names/Synonyms: DKFZp586J0119; EI2BD; EIF-2B; eIF-2B GDP-GTP exchange factor subunit delta; EIF2B; EIF2B4; EIF2BD; EIF2Bdelta; eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa; translation initiation factor eIF-2b delta subunit; Translation initiation factor eIF-2B subunit delta
Gene Symbols: EIF2B4
Molecular weight: 57,557 Da
Basal Isoelectric point: 9.45  Predict pI for various phosphorylation states
CST Pathways:  Translation: eIF2  |  Translational Control
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Protein Structure Not Found.

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