85-1571-50　β-Galactosidase1 (Galactosidase, beta 1, GLB1) 20ug　G1041-47J

特徴

• GLB1 is a lysosomal Bgalactosidase that hydrolyzes the terminal Bgalactose from gangliosideand keratan sulfate. Defects in this gene are the causes of lysosomal storage diseases for GM1gangliosidosis and Morquio B syndrome (also known as mucopolysaccharidosis IVB) (1, 2, 3). In GM1 gangliosidosis, GM1 ganglioside accumulates in the neurons of the central nervous system, because of the deficiency (0 ±3% of normal) of lysosomal Bgalactosidase activity. GM1 gangliosidosis demonstrates varying degrees of clinical severity but is invariably fatal, and children with the most common and severe form of GM1 gangliosidosis usually die within 3 years of birth. Morquio B syndrome patients are neurologically normal, but display severe skeletal dysostosis multiplex because of an accumulation of keratan sulfate (4). More than 100 mutations have been identified for GLB1, which result in different residual activities of the mutant enzymes and a spectrum of symptoms in the two related diseases (5). In lysosome, themature Bgalactosidase protein associates with cathepsin A and neuraminidase 1 to form thelysosomal multienzyme complex (6). An alternative splicing at the RNA level of GLB1 results acatalytically inactive Bgalactosidase (also called elastinbinding protein) that plays an important role in vascular development (7).
• Source:Recombinant corresponding to Met1-Val677 from human GLB1, C-terminal, 6-His tag, expressed in CHO cells.
• Molecular Weight:~74k
• Biological Activity:Measured by its ability to cleave a fluorogenic substrate, MethylumbelliferylBDgalactopyranoside
• The specific activity is >1,800 pmoles/min/ug, as measured under the described conditions.
• Endotoxin Level:<1EU/ug (LAL method)
• Storage and Stability:May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing.. Store at -20°C. Aliquots are stable for at least 6 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.