84-1215-95　GLB1 (Beta-galactosidase, Acid beta-galactosidase, Lactase, Elastin Receptor 1, ELNR1) 100ug　G1041-47V

特徴

• GLB1, a 60-76kD glycoprotein, is a lysosomal B-galactosidase that hydrolyzes the terminal B-galactose from ganglioside and keratan sulfate.
• Defects in this gene are the causes of lysosomal storage diseases for GM1-gangliosidosis and Morquio B syndrome.
• In GM1 gangliosidosis, GM1 ganglioside accumulates in the neurons of the central nervous system, because of the deficiency (0±3% of normal) of lysosomal B-galactosidase 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.
• 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.
• In lysosome, the mature B-galactosidase protein associates with cathepsin A and neuraminidase 1 to form the lysosomal multienzyme complex.
• An alternative splicing at the RNA level of GLB1 results a catalytically inactive B-galactosidase (also called elastin-binding protein) that plays an important role in vascular development.
• Applications:Suitable for use in Western Blot.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1ug/mlOptimal dilutions to be determined by the researcher.
• Storage and Stability:Lyophilized powder may be stored at -20°C.
• Stable for 12 months at -20°C.
• Reconstitute with sterile PBS.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Reconstituted product is stable for 12 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.