beta-Galactosidase-1/GLB1 Antibody [Unconjugated]

This product is produced by and ships from R&D Systems, Inc., a Bio-Techne brand.

GLB1, a 60-76 kDa (predicted) glycoprotein, is a lysosomal beta ‑galactosidase that hydrolyzes the terminal beta -galactose from ganglioside and keratan sulfate. Defects in this gene are the causes of lysosomal storage diseases for GM1-gangliosidosis 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 beta ‑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 (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, the mature beta -galactosidase protein associates with cathepsin A and neuraminidase 1 to form the lysosomal multienzyme complex (6). An alternative splicing at the RNA level of GLB1 results a catalytically inactive beta -galactosidase (also called elastin-binding protein) that plays an important role in vascular development (7).

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.

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Publication using AF6464	Applications	Species
Cuddy L, Mazzulli J Analysis of lysosomal hydrolase trafficking and activity in human iPSC-derived neuronal models STAR Protocols 3/1/2021 [PMID: 33659904]

Array AF6464

• beta-Galactosidase-1/GLB1 Antibodies
• beta-Galactosidase-1/GLB1 ELISA Kits
• beta-Galactosidase-1/GLB1 Lysate
• beta-Galactosidase-1/GLB1 Proteins
• beta-Galactosidase-1/GLB1 Proteins and Enzyme