GBA3, CBG, CBGL1, Cytosolic beta-glucosidase, Cytosolic beta-glucosidase-like protein 1
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013],catalytic activity:Hydrolysis of terminal, non-reducing beta-D-glucosyl residues with release of beta-D-glucose.,enzyme regulation:Inhibited by 2,4-dinitrophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside and sodium taurocholate.,function:Glycosidase probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides. Able to hydrolyze a broad variety of glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens.,PTM:The N-terminus is blocked.,similarity:Belongs to the glycosyl hydrolase 1 family.,similarity:Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.,tissue specificity:Present in small intestine (at protein level). Expressed in liver, small intestine, colon, spleen and kidney. Down-regulated in renal cell carcinomas and hepatocellular carcinomas.,
