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EIF2B2 gene

Known as: EIF2B-BETA, EIF2B, eukaryotic translation initiation factor 2B subunit beta 
This gene plays a role in the regulation of protein translation.
National Institutes of Health

Related topics

Related topics

11 relations
EIF2B1 protein, humanEIF2B4 geneEIF2B4 protein, humanEIF2B5 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Paradoxical Sensitivity to an Integrated Stress Response Blocking Mutation in Vanishing White Matter Cells
The eukaryotic translation initiation factor eIF2B promotes mRNA translation as a guanine nucleotide exchange factor (GEF) for… 
2012
2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
Leukodystrophy with vanishing white matter (VWM) is a neurodegenerative disorder with autosomal recessive traits that is caused… 
2012
2012
Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations
Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The… 
2011
2011
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5
Leukoencephalopathy with vanishing white matter (VWM) is a type of leukoencephalopathy with autosomal recessive inheritance… 
Highly Cited
2011
Highly Cited
2011
Technical note: Validation of candidate reference genes for normalization of quantitative PCR in bovine mammary epithelial cells responding to inflammatory stimuli.
Mammary epithelial cells (MEC) participate in the first line of defense of the mammary gland to invading pathogens. In vitro… 
Highly Cited
2011
Highly Cited
2011
Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes
Autosomal recessive mutations in eukaryotic initiation factor 2B (eIF2B) cause leukoencephalopathy vanishing white matter with a… 
Review
2009
Review
2009
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
Mutations in one of the five eukaryotic initiation factor 2B genes (EIF2B1-5) were first described in childhood ataxia with… 
Review
2006
Review
2006
Vanishing white matter disease: a review with focus on its genetics.
Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset… 
2005
2005
Identification of ten novel mutations in patients with eIF2B‐related disorders
Autosomal recessive inherited mutations in each of the five eukaryotic initiation factor 2B (eIF2B) subunits are known to cause… 
Highly Cited
2001
Highly Cited
2001
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is… 
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