eIF2B4 è un gene codificato dal simbolo EIF2B4. Altri nomi includono: Translation initiation factor eIF-2B subunit delta; eIF-2B GDP-GTP exchange factor subunit delta; EIF2BD. eIF2B4 ha una massa di 57.56kDa, una lunghezza di amminoacidi di 523, ed è implicato in Leukodystrophy with vanishing white matter.
Offriamo 6 anticorpi contro eIF2B4, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Sommario di Entrez
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.
Coinvolgimento nella malattia
Leukodystrophy with vanishing white matter: 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.
Somiglianze di sequenza
Belongs to the eIF-2B alpha/beta/delta subunits family.
