Gene: LOC105374249

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs28939717 in LOC105374249;EIF2B5 gene and Childhood Ataxia with Central Nervous System Hypomyelinization PMID 15776425 2005 Identification of ten novel mutations in patients with eIF2B-related disorders.

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

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

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

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

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

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

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

rs113994048 in LOC105374249;EIF2B5 gene and Movement Disorders PMID 16807905 2006 Vanishing white matter disease: a review with focus on its genetics.

PMID 20838246 2010 Leukoencephalopathy with vanishing white matter: a review.

PMID 9710032 1998 Phenotypic variation in leukoencephalopathy with vanishing white matter.

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

PMID 25089094 2014 Vanishing white matter disease in a spanish population.