Invitrogen™ Human Alpha-Galactosidase A/GLA ELISA Kit

Beschrijving

Human Alpha-Galactosidase A/GLA quantitates human Alpha-Galactosidase A/GLA in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human Alpha-Galactosidase A/GLA.

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.