eIF2B epsilon Recombinant Rabbit mAb (一抗) | Bioss

EIF2B5

Translation initiation factor eIF-2B subunit epsilon

Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2.

Widely expressed. Not detected in lymphocytes.

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 (By similarity).

Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:603896]. 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 gamma/epsilon subunits family.
Contains 1 W2 domain.

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