EIF2B1 cdna clone
EIF2B1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Uniprot Description
eIF2B-alpha: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. Defects in EIF2B1 are a cause of leukodystrophy with vanishing white matter (VWM). 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. Belongs to the eIF-2B alpha/beta/delta subunits family.
Protein type: Translation; Translation initiation
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: cytoplasm; cytosol; eukaryotic translation initiation factor 2B complex; membrane; plasma membrane
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; S-methyl-5-thioribose-1-phosphate isomerase activity; translation initiation factor activity
Biological Process: cellular response to stimulus; methionine salvage; oligodendrocyte development; regulation of translational initiation; response to glucose stimulus; response to heat; response to peptide hormone stimulus; translational initiation
Disease: Leukoencephalopathy With Vanishing White Matter
Research Articles on EIF2B1
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Product Notes
The EIF2B1 eif2b1 (Catalog #AAA1272739) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGACGACA AGGAGTTAAT TGAATACTTT AAGTCTCAGA TGAAAGAAGA TCCTGACATG GCCTCAGCAG TGGCTGCCAT CCGGACGTTG CTGGAGTTCT TGAAGAGAGA TAAAGGGGAG ACAATCCAGG GTCTGAGGGC GAATCTCACC AGTGCCATAG AAACCCTGTG TGGTGTGGAC TCCTCTGTGG CAGTGTCCTC TGGCGGGGAG CTCTTCCTCC GCTTCATCAG TCTTGCCTCC CTGGAATACT CCGATTACTC CAAATGTAAA AAGATCATGA TTGAGCGGGG AGAACTTTTT CTCAGGAGAA TATCACTGTC AAGAAACAAA ATTGCAGATC TGTGCCATAC TTTCATCAAA GATGGAGCGA CAATATTGAC TCACGCCTAC TCCAGAGTGG TCCTGAGAGT CCTGGAAGCA GCCGTGGCGG CCAAGAAGCG ATTTAGTGTA TACGTCACAG AGTCACAGCC TGATTTGTCA GGTAAGAAAA TGGCCAAAGC CCTCTGTCAC CTCAACGTCC CTGTCACTGT GGTGCTAGAT GCTGCTGTCG GCTACATCAT GGAGAAAGCA GATCTTGTCA TAGTTGGTGC TGAAGGAGTT GTTGAAAACG GAGGAATTAT TAACAAGATT GGAACCAACC AGATGGCTGT GTGTGCCAAA GCACAGAACA AACCTTTCTA TGTGGTTGCA GAAAGTTTCA AGTTTGTCCG GCTCTTTCCA CTAAACCAGC AAGACGTCCC AGATAAGTTT AAGTATAAGG CAGACACTCT CAAGGTCGCG CAGACTGGAC AAGACCTCAA AGAGGAGCAT CCGTGGGTCG ACTACACTGC CCCTTCCTTA ATCACTCTGC TGTTTACAGA CCTGGGCGTG CTGACACCCT CAGCAGTCAG CGATGAGCTC ATCAAGCTCT ATCTGTAA. It is sometimes possible for the material contained within the vial of "EIF2B1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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