Protein: EI2BB_HUMAN
Translation initiation factor eIF-2B subunit beta
SUBUNIT: Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
DISEASE: Defects in EIF2B2 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.
SEQUENCE CAUTION: Sequence=AAC42002.1; Type=Frameshift; Positions=Several; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B2";
GENE SYNONYMS: EIF2BB.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- EIF2B2
Synonyms:
- S20I15
- eIF-2B GDP-GTP exchange factor subunit beta
- S20III15
Stable Link:
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FUNCTION: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. more...