Gene: EIF2B3
Alternate names for this Gene: EIF-2B|EIF2Bgamma
Gene Summary: The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1p34.1
Description of this Gene: eukaryotic translation initiation factor 2B subunit gamma
Type of Gene: protein-coding
rs113994022 in
EIF2B3 gene and
Childhood Ataxia with Central Nervous System Hypomyelinization
PMID 25079571 2014 Vanishing white matter disease in French-Canadian patients from Quebec.
PMID 25761052 2015 Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
PMID 11835386 2002 Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
PMID 21484434 2011 Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
PMID 19158808 2009 Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.