Cytosolic Beta-Glucosidase (GBA3) ELISA Kit for Human

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]

GBA3: 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. Possesses beta- glycosylceramidase activity and may be involved in a nonlysosomal catabolic pathway of glycosylceramide. Belongs to the glycosyl hydrolase 1 family. Klotho subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - starch and sucrose; Other Amino Acids Metabolism - cyanoamino acid; EC 3.2.1.21; Hydrolase

Chromosomal Location of Human Ortholog: 4p15.2

Cellular Component: cytosol

Molecular Function: beta-galactosidase activity; beta-glucosidase activity; glycosylceramidase activity

Biological Process: carbohydrate metabolic process; glycoside catabolic process; glycosphingolipid metabolic process; glycosylceramide catabolic process; sphingolipid metabolic process