Name: GCase
Target: W00186
Workpackage: WP11.2 Neuro-Degenerative Disease
Title: X-ray structure of human acid-b-glucosidase, the defective enzyme in Gaucher disease.
Function: Mutations occurring in this enzyme cause Gaucher disease, a genetic illness that mainly affects Ashkenazi Jews. The solution of the structure of this enzyme may result in new therapies for this disease.
PDB: 1OGS (3D)
Publication: Dvir H, Harel M, McCarthy AA, Toker L, Silman I, Futerman AH, Sussman JL, "X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.", EMBO Rep 2003 Jul;4(7):704-9. Abstract
Related Targets: W00572 (1Y7V); W00361
