This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.
Immunogen Information
Immunogen
Recombinant fusion protein of human Glucosylceramidase beta
Gene ID
2629
Swissprot
P04062
Synonyms
GBAGBA1GCBGLUC
Calculated MW
46kDa/48kDa
Observed MW
48KDa
Applications
Reactivity
Human,Rat
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.