Alpha-Galactosidase A Protein, Human (HEK293, His)

Alpha-Galactosidase A Protein, Human (HEK293, His), a recombinant human alpha-Galactosidase A produced in HEK293 cells, has a His tag at the C-terminus. Alpha-Galactosidase A Protein, Human (HEK293, His) is the lysosomal exoglycosidase responsible for the hydrolysis of terminal α-galactosyl residues from glycoconjugates and is the defective enzyme causing Fabry disease^[1].

alpha-Galactosidase A (α-GAL, also known as α-GAL A) is responsible for the breakdown of α-galactosides in the lysosome. Defects in human alpha-Galactosidase A lead to the development of Fabry disease, a lysosomal storage disorder characterized by the buildup of α-galactosylated substrates in the tissues. alpha-Galactosidase A is an active target of clinical research: there are currently two treatment options for Fabry disease, recombinant enzyme replacement therapy and pharmacological chaperone therapy^[2].

Measured by its ability to hydrolyze 4-methylumbelliferyl-alpha -D-galactopyranoside. The specific activity is 8893.70 pmol/min/μg, as measured under the described conditions.

Human

HEK293

C-6*His

P06280 (L32-L429)

2717  [NCBI]

LDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLLHHHHHH

50-60 kDa

Greater than 95% as determined by reducing SDS-PAGE

Solution.

Supplied as a 0.2 μm filter solution of 20 mM Tris-HCl, 150 mM NaCl, pH 8.0.

<1 EU/μg, determined by LAL method.

Stored at -80°C for 1 year. It is stable at -20°C for 3 months after opening. It is recommended to freeze aliquots at -80°C for extended storage. Avoid repeated freeze-thaw cycles.

Shipping with dry ice.

• [1]. Fitzmaurice TF, et al. Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele. J Inherit Metab Dis. 1997 Sep;20(5):643-57.  [Content Brief]

  [2]. Guce AI, et al. Catalytic mechanism of human alpha-galactosidase. J Biol Chem. 2010 Feb 5;285(6):3625-32.  [Content Brief]