Function
Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.
Biological Context
Subcellular Location: Lysosome
Disease Association: Fabry disease (FABRYD) : An X-linked inborn error of glycosphingolipid catabolism due to lysosomal alpha-galactosidase A deficiency, leading to systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids. Clinical features include angiokeratomas over the lower trunk, progressive renal failure, cardiac disease, cerebrovascular disease, small-fiber peripheral neuropathy, febrile episodes, and burning pain in the extremities. Disease onset is usually in childhood or adolescence. Death results from renal failure, cardiac or cerebrovascular disease. Heterozygous females may exhibit the disorder in an attenuated form. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Alpha-galactosidase A (GLA) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 32-429aa, with N-terminal 6xHis-tagged tag, molecular weight 49.4kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
