Gene: EIF2B5

Alternate names for this Gene: CACH|CLE|EIF-2B|EIF2Bepsilon|LVWM

Gene Summary: This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter.

Gene is located in Chromosome: 3

Location in Chromosome : 3q27.1

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

Type of Gene: protein-coding

rs113994049 in EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 12707859 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations.

PMID 20975056 2010 Genotype-phenotype correlation in vanishing white matter disease.

PMID 24938145 2014 Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

PMID 22952606 2012 CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.

PMID 22699478 2011 Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.

PMID 12325082 2002 Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

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

PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

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

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