Gene: EIF2B2

Alternate names for this Gene: EIF-2Bbeta|EIF2B

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: eukaryotic translation initiation factor 2B subunit beta

Type of Gene: protein-coding

rs104894425 in EIF2B2 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PMID 22285377 2012 Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

PMID 22729508 2013 Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

PMID 15060152 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

PMID 15136673 2004 The effect of genotype on the natural history of eIF2B-related leukodystrophies.

PMID 11704758 2001 Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 18263758 2008 Genetic and clinical heterogeneity in eIF2B-related disorder.

PMID 22430157 2012 Characteristics of early MRI in children and adolescents with vanishing white matter.

PMID 14566705 2003 eIF2B-related disorders: antenatal onset and involvement of multiple organs.

PMID 27159321 2016 Whole exome sequencing in patients with white matter abnormalities.

PMID 21560189 2011 Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

rs113994016 in EIF2B2 gene and Premature Menopause PMID 29706645 2018 "Identification of variants in pleiotropic genes causing ""isolated"" premature ovarian insufficiency: implications for medical practice."