EIF2B2 Antibody

1. Data show that eIF2Balpha and eIF2Bbeta bind to adjacent surfaces on eIF2alpha-N-terminal domains (NTDs). PMID: 29036434
2. It would be better to consider Vanishing White Matter Disease as an eIF2B-related multisystem disorder, not just as a neurological disorder. PMID: 28041799
3. An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease. PMID: 22729508
4. analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report] PMID: 22285377
5. Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy. PMID: 12707859
6. Biochemical analyses indicate that mutations analyzed in eIF2Balpha and -epsilon reduce the steady-state level of the affected subunit, while the most severe mutant tested, eIF2Bbeta(V341D), forms complexes with reduced stability and lower eIF2B activity. PMID: 14993275
7. The role of the residues Ser2 and Ser67 contribute to the important role of the N-terminal region of eIF2beta for its function in mammals. PMID: 16225457
8. CACH syndrome is linked to mutations in the five EIF2B--REVIEW PMID: 17878805
9. Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to >120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon). PMID: 18263758

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HGNC: 3258

OMIM: 603896

KEGG: hsa:8892

STRING: 9606.ENSP00000266126

UniGene: Hs.409137