Galactosidase alpha (GLA) (NM_000169) Human Recombinant Protein

Specifications

Product Data
Species	Human
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) Leu32-Leu429
Tag	C-His
Predicted MW	46.4 kDa
Concentration	lot specific
Purity	>95% as determined by SDS-PAGE and Coomassie blue staining
Buffer	Supplied as a 0.2 um filtered solution of 20mM Tris-HCl, 150mM NaCl, pH 8.0.
Storage	Store at < -20°C, stable for 6 months after receipt. Please minimize freeze-thaw cycles.
Stability	Stable for at least 3 months from date of receipt under proper storage and handling conditions.
Endotoxin	< 0.1 EU per µg protein as determined by LAL test
Reference Data
RefSeq
Locus ID	2717
UniProt ID	P06280
Cytogenetics	Xq22.1
Synonyms	GALA
Summary	This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Protein Families	Druggable Genome
Protein Pathways	Galactose metabolism, Glycerolipid metabolism, Glycosphingolipid biosynthesis - globo series, Lysosome, Sphingolipid metabolism

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