The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
< 1.000 Eu/µg
>90% by SDS-PAGE. Purified using conventional chromatography techniques.
Concentration information loading...
Preparation and Storage
Stability and Storage
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
pH: 7.4 Constituents: 90% PBS, 10% Glycerol
Alpha D galactosidase A
Alpha D galactoside galactohydrolase
Alpha D galactoside galactohydrolase 1
Alpha gal A
Alpha galactosidase A
Involvement in disease
Defects in GLA are the cause of Fabry disease (FD) [MIM:301500]. 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.