EIF2B5 Recombinant Monoclonal Antibody

1. Exon-level analyses classified > 1,000 mRNAs as alternatively spliced under hypoxia and uncovered a unique retained intron (RI) in the master regulator of translation initiation, EIF2B5. PMID: 28961236
2. This study demonstrated that no evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley if India. PMID: 26671108
3. Patient exhibits an early-infantile onset and progressive disease course resembling Cree leukoencephalopathy, suggesting a severe functional disruption of eIF2Bepsilon caused by R195H as well as by I408T mutations. PMID: 25457085
4. Missense mutations in EIF2B5 are associated with multiple sclerosis. PMID: 24980014
5. Also a mutation c.1913G>A[p.Arg638 His] in exon 14 of the EIF2B5-Gens as single nucleotide polymorphism. PMID: 21503715
6. crystal structure of the guanine nucleotide exchange factor for elf2 PMID: 21204011
7. Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bepsilon (eIF2Bepsilon) identified in Chinese patients with vanishing white matter disease PMID: 21307862
8. The clinical phenotype in vanishing white matter disease is influenced by the combination of both mutations(p.Arg113His and p.Thr91Ala/p.Arg339any). Females tend to do better than males. PMID: 20975056
9. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. PMID: 12325082
10. Mutation in EIF2B5 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy. PMID: 12707859
11. We demonstrated that mutations in the gene EIF2B5 cause "leukoencephalopathy with vanishing white matter." This gene encodes one of the five subunits of the translation factor eIF2B. PMID: 14572143
12. mutations in EIF2b5 causes a specific reduction in the generation of GFAP+ astrocytes in vanishing white matter disease PMID: 15723074
13. Arg113His mutation in eIF2B5 associated with adult onset of vanishing white matter leukoencephalopathy is not present in multiple sclerosis patients PMID: 17439913
14. We describe progressive megalencephaly and severe brain abnormalities due to specific EIF2Bepsilon mutations in two unrelated families. PMID: 17646634
15. These data support the importance of the non-catalytic domain of the eIF2Bepsilon subunit in the eIF2B complex formation and activity. PMID: 18294360
16. no evidence for the involvement of EIF2B5 in multiple sclerosis susceptibility in France PMID: 18562513
17. Resistance exercise decreases eIF2Bepsilon phosphorylation and potentiates the feeding-induced stimulation of p70S6K1 and rpS6 in young men. PMID: 18565837

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HGNC: 3261

OMIM: 603896

KEGG: hsa:8893

STRING: 9606.ENSP00000273783

UniGene: Hs.283551