Product Description:

The human GLB1 gene encodes two forms of beta-galactosidase. Isoform 1 is a lysosomal enzyme responsible for cleaving beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. Although isoform 2 has no beta-galactosidase activity, it plays critical roles in the formation of extracellular elastic fibers, or elastogenesis, and in the development of connective tissue. Isoform 2 appears identical to the elastin-binding protein (EBP), which is a major component of the non-integrin surface receptor expressed on many cell types. EBP interacts with cathepsin A and neuraminidase 1 to form the elastin receptor complex on the cell surface. More than 80 mutations in the GLB1 gene have been found to cause GM1 gangliosidosis, a lysosomal storage disease. More than 10 mutations in the GLB1 gene have been found to cause mucopolysaccharidosis type IV. All of the mutations that cause mucopolysaccharidosis disrupt the breakdown of keratan sulfate. The degradation of GM1 ganglioside is not affected by these mutations. The beta-galactosidase assay is based on the hydrolysis of 2-nitrophenyl-beta-D-galactopyranoside. Cleavage of pNA from the substrate increases absorbance at 405 nm (extinction coefficient= 18 mM-1cm-1), allowing for sensitive and quantitative assay of beta-GAL enzyme activity present in tissue/cell lysates and biological fluids. Please see LacZ Assay Kit for assay of E. coli beta-Galactosidase (LacZ). Kit components are stable for at least 1 year if stored and handled properly.

Kit Components:

beta-Galactosidase Assay Solution: 10 ml, store at -20ºC (for 100 wells)

beta-Galactosidase Control Solution: 10 ml, store at 4ºC

10x Cell Lysis Solution: 25 ml, store at 4ºC

SDS:

TX-100, 2-mercaptoethanol, 2-nitrophenyl-beta-D-galactopyranoside, sodium acetate, Acetic acid

Related Kits:

GAA Assay, alpha-Galactosidase Assay