EIF2B3

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Eukaryotic Translation Initiation Factor 2B Subunit Gamma

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

Cytoplasmic translational initiation Source: GO_Central
Hippocampus development Source: Ensembl
Oligodendrocyte development Source: UniProtKB
Response to glucose Source: UniProtKB
Response to heat Source: UniProtKB
Response to peptide hormone Source: UniProtKB
T cell receptor signaling pathway Source: UniProtKB
Translational initiation Source: UniProtKB

Cytosol; Cytoplasm; Eukaryotic translation initiation factor 2B complex; Guanyl-nucleotide exchange factor 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.