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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
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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… Expand
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2013
2013
A Yeast Purification System for Human Translation Initiation Factors eIF2 and eIF2Bε and Their Use in the Diagnosis of CACH/VWM Disease
Recessive inherited mutations in any of five subunits of the general protein synthesis factor eIF2B are responsible for a white… Expand
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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… Expand
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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… Expand
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… Expand
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… Expand
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2011
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… Expand
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Review
2007
Review
2007
[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing… Expand
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… Expand
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… Expand
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