"GLB1" Related Products


Recombinant Human GLB1 protein, His-tagged

Cat.No.: GLB1-7758H
Product Overview: Recombinant Human GLB1(Leu24-Val677) fused with His tag at C-terminal was expressed in HEK293.
Description: 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.
Source: HEK293
Species: Human
Tag : His
Form: Supplied as a 0.2 μm filtered solution of 20mM TrisHCl, 150mM NaCl, pH 8.0.
Endotoxin: Less than 0.1 ng/µg (1 IEU/µg) as determined by LAL test.
Purity: Greater than 95% as determined by reducing SDS-PAGE.
Storage: Store at < -20 centigrade, stable for 6 months after receipt.
Please minimize freeze-thaw cycles.
Gene Name: GLB1 galactosidase, beta 1 [ Homo sapiens ]
Official Symbol: GLB1
Synonyms: GLB1; galactosidase, beta 1; elastin receptor 1 (67kD) , elastin receptor 1, 67kDa , ELNR1; beta-galactosidase; EBP; lactase; acid beta-galactosidase; elastin receptor 1, 67kDa; ELNR1; MPS4B;
Gene ID: 2720
mRNA Refseq: NM_000404
Protein Refseq: NP_000395
MIM: 611458
UniProt ID: P16278
Chromosome Location: 3p22.3
Pathway: Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Glycosaminoglycan degradation, organism-specific biosystem; Glycosaminoglycan degradation, conserved biosystem; Glycosphingolipid biosynthesis - ganglio series, organism-specific biosystem; Glycosphingolipid biosynthesis - ganglio series, conserved biosystem; Glycosphingolipid metabolism, organism-specific biosystem;
Function: beta-galactosidase activity; cation binding; galactoside binding; hydrolase activity, hydrolyzing O-glycosyl compounds; protein binding;

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