GLB1 Human Recombinant Protein
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Specifications
Product Data | |
Species | Human |
Protein Source | Human 293 |
Expression cDNA Clone or AA Sequence |
Leu24-Val677
|
Tag | C-6His |
Buffer | Lyophilized from a 0.2 um filtered solution of 20mM Tris-HCl, 150mM NaCl, pH 8.0 |
Note | Recombinant Human beta-Galactosidase is produced by our Mammalian expression system and the target gene encoding Leu24-Val677 is expressed with a 6His tag at the C-terminus. |
Stability | 12 months from date of despatch |
Reference Data | |
Locus ID | 2720 |
UniProt ID | P16278 |
Summary | β Galactosidase is a lysosomal β Galactosidase that hydrolyzes the terminal β Galactose from Ganglioside and Keratan sulfate. In lysosome, the mature β Galactosidase protein associates with Cathepsin A and Neuraminidase 1 to form the lysosomal multienzyme complex. An alternative splicing at the RNA level of β Galactosidase results a catalytically inactive β Galactosidase that plays an important role in vascular development. Defects of β-galactosidase (GLB1) are the cause of diseases like GM1-gangliosidosis which is a lysosomal storage disease and Morquio Syndrome B that cause patients to have abnormal elastic fibers. More than 100 mutations have been identified for β Galactosidase, which result in different residual activities of the mutant enzymes and a spectrum of symptoms in the two related diseases. |
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