GLB1 Human Recombinant Protein

Specifications

Product Data
Species	Human
Protein Source	Human 293
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) 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.
Storage	Lyophilized protein should be stored at < -20°C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 4-7°C for 2-5 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
Stability	12 months from date of despatch
Reference Data
Locus ID	2720
UniProt ID	P16278
Synonyms	Beta-Galactosidase; Acid Beta-Galactosidase; Lactase; Elastin Receptor 1; GLB1; ELNR1
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.
Protein Families	Druggable Genome
Protein Pathways	Galactose metabolism, Glycosaminoglycan degradation, Glycosphingolipid biosynthesis - ganglio series, Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism

*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen complexities in the preparation of your product. International customers may expect an additional 1-2 weeks in shipping.