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Rabbit Anti-eIF2B4 antibody
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]
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.
DISEASE:
Defects in EIF2B4 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 alpha/beta/delta subunits family.
SWISS:
Q9UI10
Gene ID:
8890
Database links:
Entrez Gene: 8890 Human
Entrez Gene: 13667 Mouse
Entrez Gene: 117019 Rat
Omim: 606687 Human
SwissProt: Q3T058 Cow
SwissProt: Q9UI10 Human
SwissProt: Q61749 Mouse
SwissProt: P41111 Rabbit
SwissProt: Q63186 Rat
Unigene: 169474 Human
Unigene: 29394 Mouse
Unigene: 11060 Rat
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