Rabbit anti-Human GBA3 Polyclonal Antibody

Uniprot Id

Q9H227

Target Species

Human

Target Name

GBA3

Target Full Name

Cytosolic beta-glucosidase

Target Function

Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides. Has a significant glucosylceramidase activity in vitro. However, that activity is relatively low and its significance in vivo is not clear. Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph. However, the in vivo relevance of these activities is unclear. It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics. Could also play a role in the catabolism of cytosolic sialyl free N-glycans.

Target Subcellular Location

Cytoplasm, cytosol.

Target Protein Families

Glycosyl hydrolase 1 family, Klotho subfamily

Target 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.

Target Research Area

Signal Transduction

Target Synonyms

CBG; CBGL1; Cytosolic beta glucosidase ; Cytosolic beta glucosidase like protein 1; Cytosolic beta-glucosidase; Cytosolic beta-glucosidase-like protein 1; GBA3; GBA3_HUMAN; GLUC; Glucosidase beta acid 3; Klotho related protein ; KLRP

Target Background

The protein encoded by this gene is a cytosolic enzyme that can hydrolyze several types of glycosides. The enzyme has its highest activity at neutral pH and is predominantly expressed in human liver, kidney, intestine, and spleen. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals 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.