Defective GUSB does not hydrolyse (HA)2

Stable Identifier
Reaction [transition]
Homo sapiens
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Tetrameric lysosomal enzyme beta-glucuronidase (GUSB tetramer) hydrolyses glucuronate from the HA tetrasaccharide (HA(2)) 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).
Literature References
PubMed ID Title Journal Year
7680524 Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

Bachinsky, DR, Grubb, JH, Sly, WS, Klinkenberg, M, Wu, BM, Shipley, JM

Am. J. Hum. Genet. 1993
9099834 Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

Fryns, JP, Liebaers, I, Lissens, W, Kleijer, WJ, Vervoort, R, Wevers, R, Buist, NR

Hum. Genet. 1997
8644704 Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

Zabot, MT, Young, EP, Liebaers, I, Lissens, W, Chabas, A, Islam, MR, Kleijer, WJ, Sly, WS, Vervoort, R, Fensom, A

Am. J. Hum. Genet. 1996
8111413 Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII

Sly, WS, Wu, BM

Hum. Mutat. 1993
Catalyst Activity

beta-glucuronidase activity of GUSB mutants [lysosomal lumen]

Normal reaction
Functional status

Loss of function of GUSB mutants [lysosomal lumen]

Name Identifier Synonyms
mucopolysaccharidosis VII DOID:12803 mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII
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