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 Dilutions:Optimal dilutions to be determined by the researcher.
Storage and Stability:Store product at 4°C if to be used immediately within two weeks.
For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20°C.
Aliquots are stable at -20°C for 12 months after receipt.
Dilute required amount only prior to immediate use.
Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Note: Applications are based on unconjugated antibody.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by Protein A affinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.
Specificity：Recognizes human GLB1.
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu
Immunogen：Full length recombinant protein corresponding to aa1-677 of human GLB1.
