Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from the HA disaccharide GlcA-β1,3-GlcNAc resulting in the single sugars glucuronic acid and N-acetylglucosamine. Defects in beta-glucuronidase (GUSB; MIM:611499) cause mucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220), an autosomal recessive lysosomal storage disease. Mutations causing severe forms of the disease are R356* (Shipley et al. 1993), A354V and R611W (Wu & Sly 1993), S52F (Vervoot et al. 1997) and R216W (Vervoort et al. 1996).
Bachinsky, DR, Grubb, JH, Sly, WS, Klinkenberg, M, Wu, BM, Shipley, JM
Fryns, JP, Liebaers, I, Lissens, W, Kleijer, WJ, Vervoort, R, Wevers, R, Buist, NR
Zabot, MT, Young, EP, Liebaers, I, Lissens, W, Chabas, A, Islam, MR, Kleijer, WJ, Sly, WS, Vervoort, R, Fensom, A
Sly, WS, Wu, BM
beta-glucuronidase activity of GUSB mutants [lysosomal lumen]
Loss of function of GUSB mutants [lysosomal lumen]
© 2022 Reactome