EIF2B4

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. [provided by RefSeq, Jul 2008]

Eukaryotic Translation Initiation Factor 2B Subunit Delta

Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

Myelination Source: UniProtKB
Oligodendrocyte development Source: UniProtKB
Ovarian follicle development Source: UniProtKB
Regulation of catalytic activity Source: GOC
Regulation of translation Source: UniProtKB
Response to glucose Source: UniProtKB
Response to heat Source: UniProtKB
Response to peptide hormone Source: UniProtKB
T cell receptor signaling pathway Source: UniProtKB
Translational initiation Source: UniProtKB

Cytosol; Cytoplasm; Eukaryotic translation initiation factor 2B complex

Leukodystrophy with vanishing white matter (VWM):
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.