Defective GUSB does not hydrolyse CS/HS precursor

Stable Identifier
R-HSA-9036070
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
ReviewStatus
5/5
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Defective GUSB does not hydrolyse CS/HS precursor
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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).
Literature References
PubMed ID Title Journal Year
7680524 Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

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

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

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

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

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

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

Wu, BM, Sly, WS

Hum. Mutat. 1993
Participants
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Catalyst Activity

beta-glucuronidase activity of GUSB mutants [lysosomal lumen]

Physical Entity
GUSB mutants [lysosomal lumen] (Homo sapiens)
Activity
beta-glucuronidase activity (GO:0004566)
Normal reaction
GUSB tetramer hydrolyses CS/HS precursor (Homo sapiens)
Functional status

Loss of function of GUSB mutants [lysosomal lumen]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
mucopolysaccharidosis VII DOID:12803 mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII
Cross References
Mondo
Authored
Jassal, B  (2012-06-13)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-06-13)
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