Non-lysosomal glucosylceramidase

Description:

Description
  • Accession: Q9HCG7
  • Swissprot: GBA2_HUMAN
  • Organism: Homo sapiens
  • Gene: GBA2
  • Target class: Enzyme

Drug Relations:

migalastat
Migalastat is a pharmacological chaperone that is designed to selectively and reversibly bind with high affinity to the active sites of certain mutant forms of alpha-Gal A, the genotypes of which are referred to as amenable mutations. Migalastat binding stabilizes these mutant forms of alpha-Gal A in the endoplasmic reticulum and facilitates their proper trafficking to lysosomes where dissociation of migalastat restores alpha-Gal A activity, leading to the catabolism of GL-3 and related substrates. Bioactivity details MOA
miglustat
Miglustat functions as a competitive and reversible inhibitor of the enzyme glucosylceramide synthase, the initial enzyme in a series of reactions which results in the synthesis of most glycosphingolipids. Miglustat helps reduce the rate of glycosphingolipid biosynthesis so that the amount of glycosphingolipid substrate is reduced to a level which allows the residual activity of the deficient glucocerebrosidase enzyme to be more effective (substrate reduction therapy). In vitro and in vivo studies have shown that miglustat can reduce the synthesis of glucosylceramide-based glycosphingolipids. Bioactivity details MOA