Reaction: Defective GUSB does not hydrolyse CS/HS precursor
- in pathway: MPS VII - Sly syndrome
Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from heparan or the linker chain. 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).
Reaction - small molecule participants:
H2O [lysosomal lumen]
CS/HS precursor [lysosomal lumen]
Reactome.org reaction link: R-HSA-9036070
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Reaction input - small molecules:
water
beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl-yl group
Reaction output - small molecules:
Reactome.org link: R-HSA-9036070