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It would be better to consider Vanishing White Matter Disease as an eIF2B (show EIF2B1 Proteins)-related multisystem disorder, not just as a neurological disorder.
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.
analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report]
Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.
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 (show EIF2B1 Proteins) activity.
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.
CACH (show EIF2B5 Proteins) syndrome is linked to mutations in the five EIF2B (show EIF2B1 Proteins)--REVIEW
Study reports 9 novel mutations in EIF2B (show EIF2B1 Proteins) 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 (show EIF2B1 Proteins) protein (alpha, beta, gamma, delta, epsilon).
This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation.
, eIF-2B GDP-GTP exchange factor subunit beta
, translation initiation factor eIF-2B subunit beta
, eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)
, protein synthesis initiation factor eIF-2B beta subunit