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Protein Page:
GLA

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - galactose; EC 3.2.1.22; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Hydrolase; Lipid Metabolism - glycerolipid; Lipid Metabolism - sphingolipid
Chromosomal Location of Human Ortholog: Xq22.1
Cellular Component: cytoplasm; extracellular region; Golgi apparatus; lysosomal lumen; lysosome
Molecular Function: alpha-galactosidase activity; catalytic activity; galactoside binding; hydrolase activity; protein binding; protein homodimerization activity; receptor binding
Biological Process: glycoside catabolic process; glycosphingolipid catabolic process; glycosphingolipid metabolic process; glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; negative regulation of nitric-oxide synthase activity; neutrophil degranulation; oligosaccharide metabolic process
Disease: Fabry Disease
Reference #:  P06280 (UniProtKB)
Alt. Names/Synonyms: AGAL; agalsidase alfa; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; alpha-D-galactoside galactohydrolase 1; alpha-gal A; Alpha-galactosidase A; GALA; galactosidase, alpha; GLA; Melibiase
Gene Symbols: GLA
Molecular weight: 48,767 Da
Basal Isoelectric point: 5.35  Predict pI for various phosphorylation states
Select Structure to View Below

GLA

Protein Structure Not Found.
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