Description: Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA. RefSeq Summary (NM_020365): 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]. Transcript (Including UTRs) Position: hg19 chr1:45,316,194-45,452,394 Size: 136,201 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr1:45,316,623-45,446,840 Size: 130,218 Coding Exon Count: 11
ID:EI2BG_HUMAN DESCRIPTION: RecName: Full=Translation initiation factor eIF-2B subunit gamma; AltName: Full=eIF-2B GDP-GTP exchange factor subunit gamma; 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 EIF2B3 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. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B3"; WEB RESOURCE: Name=Mendelian genes eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/EIF2B3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NR50
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
