This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
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:
Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the eIF-2B alpha/beta/delta subunits family.
SWISS:
P49770
Gene ID:
8892
Database links:
Entrez Gene: 8892 Human
Entrez Gene: 513958 Cow
Entrez Gene: 217715 Mouse
Entrez Gene: 16805 Rat
Entrez Gene: 405839 Zebrafish
Omim: 606454 Human
SwissProt: Q5E9B4 Cow
SwissProt: P49770 Human
SwissProt: Q99LD9 Mouse
SwissProt: Q28690 Rabbit
SwissProt: Q62818 Rat
Unigene: 409137 Human
Unigene: 29041 Mouse
Unigene: 5910 Rat
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