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Rabbit Anti-eIF2B epsilon antibody
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. [provided by RefSeq, Nov 2009]
Function:
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Subunit:
Complex of five different subunits; alpha, beta, gamma, delta and epsilon. Interacts with RGS2.
Post-translational modifications:
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).
DISEASE:
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.
Similarity:
Belongs to the eIF-2B gamma/epsilon subunits family.
Contains 1 W2 domain.
SWISS:
Q13144
Gene ID:
8893
Database links:
Entrez Gene: 8893 Human
Entrez Gene: 24845 Mouse
Entrez Gene: 192234 Rat
Omim: 603945 Human
SwissProt: Q13144 Human
SwissProt: Q8CHW4 Mouse
SwissProt: Q64350 Rat
Unigene: 283551 Human
Unigene: 233855 Mouse
Unigene: 10607 Rat
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