Alpha-Galactosidase (alphaGAL) ELISA Kit for Porcine

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]

GLA: Defects in GLA are the cause of Fabry disease (FD). FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. Belongs to the glycosyl hydrolase 27 family.

Protein type: Lipid Metabolism - glycerolipid; Carbohydrate Metabolism - galactose; Lipid Metabolism - sphingolipid; Hydrolase; EC 3.2.1.22; Glycan Metabolism - glycosphingolipid biosynthesis - globo series

Chromosomal Location of Human Ortholog: Xq22

Cellular Component: Golgi apparatus; lysosomal lumen; lysosome; cytoplasm; extracellular region

Molecular Function: protein binding; protein homodimerization activity; hydrolase activity; alpha-galactosidase activity; galactoside binding; catalytic activity; receptor binding

Biological Process: sphingolipid metabolic process; negative regulation of nitric-oxide synthase activity; glycoside catabolic process; negative regulation of nitric oxide biosynthetic process; glycosphingolipid catabolic process; glycosylceramide catabolic process; glycosphingolipid metabolic process; oligosaccharide metabolic process

Disease: Fabry Disease