GUSB substrates Defective GUSB does not hydrolyse glucuronate Authored: Jassal, B, 2012-06-13 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). Edited: Jassal, B, 2012-06-13 Pubmed7680524 Pubmed8111413 Pubmed8644704 Pubmed9099834 Reactome Database ID Release 432318373 Reactome, http://www.reactome.org ReactomeREACT_147741 Reviewed: Alves, Sandra, 2012-08-27 Reviewed: Coutinho, Maria, 2012-08-27