1-デオキシガラクトノジリマイシン塩酸塩

プロパティ

安全情報

説明

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the α-galactosidase gene that commonly lead to enzyme instability, misfolding, and degradation. 1-Deoxygalactonojirimycin is a competititve inhibitor of α-galactosidase (IC50 = 40 nM). At subinhibitory concentrations, 1-Deoxygalactonojirimycin binds to α-galactosidase and chaperones unstable enzyme variants through the endoplasmic reticulum, allowing its movement into lysosomes. Pharmacological chaperones, including 1-Deoxygalactonojirimycin, are used to promote lysosomal delivery of unstable proteins in lysosomal storage disorders, like Fabry disease.