BACKGROUND: @entity62 with @entity62 ( @entity62 ) is an @entity74 caused by germline mutations in the genes @entity53861 -5, which encode the 5 subunits of the eukaryotic translation initiation factor @entity53861 . To date, analysis of the biochemical effects of mutations in the EIF2B2-5 genes has been carried out, but no study has been performed on mutations in the @entity53861 gene. This gene encodes @entity53861 , the smallest subunit in @entity53861 which has an important role in both the structure and regulation of the @entity53861 complex. METHODS: @entity53861 subunits were overexpressed in HEK293 cells and isolated from the resulting cell lysates by affinity chromatography. Formation of the @entity53861 complex and binding of its substrate, @entity38270 , was assessed by western blot. Assays of the @entity6370 exchange ( @entity20183 ) activity were also carried out. RESULTS: Of the 5 @entity53861 mutations studied, we found 3 that showed loss or reduction of binding of @entity53861 to the rest of the complex, one with increased @entity20183 activity, and one where no effects on activity or complex formation were observed. CONCLUSIONS: This is the first study on @entity53861 @entity62 mutations. We show that some mutations cause expected decreases in @entity20183 activity or complex formation, similar to a majority of observed @entity62 mutations. However, we also observe some unexpected changes which hint at other effects of these mutations on as yet undescribed functions of @entity53861 .

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with XXXX .

@entity6370 :: ('CHEBI:61292', 'Chemical') :: ['guanine nucleotide'] @entity20183 :: ('9181', 'Gene') :: ['GEF'] @entity53861 :: ('1967', 'Gene') :: ['eIF2Ba', 'EIF2B1', 'eIF2B'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive disorder'] @entity38270 :: ('8894', 'Gene') :: ['eIF2'] @entity62 :: ('MESH:D056784', 'Disease') :: ['VWM', 'Vanishing White Matter', 'Leukoencephalopathy']
@entity62 :: (MESH:D056784,Disease) :: ['Vanishing White Matter disease']
