EIF2B5

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.

Eukaryotic Translation Initiation Factor 2B Subunit Epsilon

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

Aging Source: Ensembl
Astrocyte development Source: UniProtKB
Astrocyte differentiation Source: UniProtKB
Hippocampus development Source: Ensembl
Myelination Source: UniProtKB
Oligodendrocyte development Source: UniProtKB
Ovarian follicle development Source: UniProtKB
Positive regulation of apoptotic process Source: Ensembl
Positive regulation of translational initiation Source: UniProtKB
Response to endoplasmic reticulum stress Source: UniProtKB
Response to glucose Source: UniProtKB
Response to heat Source: UniProtKB
Response to lithium ion Source: Ensembl
Response to peptide hormone Source: UniProtKB
T cell receptor signaling pathway Source: UniProtKB
Translational initiation Source: UniProtKB

Cytosol; Nucleus; 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.

Phosphorylated at Ser-544 by DYRK2; this is required for subsequent phosphorylation by GSK3B (By similarity). Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function.
Polyubiquitinated, probably by NEDD4.