Defective ARSB does not hydrolyse DS

Stable Identifier
Reaction [transition]
Homo sapiens
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Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolyses sulfate from N-acetylgalactosamine 4-sulfate (or 6-sulfate) units (GalNAc 4-sulfate or GalNAc 6-sulfate) within chondroitin sulfate (represented here by Chebi:63519 chain). Defects in ARSB cause mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200), an autosomal recessive lysosomal storage disorder. Severe forms of the disease are caused by the ARSB mutations Y86del (Karageorgos et al. 2004), P116H (Villani et al. 1999), C117R (Jin et al. 1992), G144R (Isbrandt et al. 1994) and R95Q/H393P (Litjens et al. 1996).
Literature References
PubMed ID Title Journal Year
8651289 Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients

Gibson, GJ, Peters, C, Brooks, DA, Hopwood, JJ, Litjens, T

Am. J. Hum. Genet. 1996
8116615 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes

Arlt, G, Isbrandt, D, Peters, C, Brooks, DA, Hopwood, JJ, von Figura, K

Am. J. Hum. Genet. 1994
1550123 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity

Jackson, CE, Schuchman, EH, Desnick, RJ, Jin, WD

Am. J. Hum. Genet. 1992
10036316 Maroteaux-lamy syndrome: five novel mutations and their structural localization

Villani, GR, Balzano, N, Saviano, M, Di Natale, P, Pavone, V, Vitale, D

Biochim. Biophys. Acta 1999
14974081 Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy

Simon, J, Harmatz, P, Clements, PR, Brooks, DA, Pollard, A, Hopwood, JJ, Karageorgos, L

Hum. Mutat. 2004
Catalyst Activity

N-acetylgalactosamine-4-sulfatase activity of ARSB mutants:Ca2+ [lysosomal lumen]

Normal reaction
Functional status

Loss of function of ARSB mutants:Ca2+ [lysosomal lumen]

Name Identifier Synonyms
mucopolysaccharidosis VI DOID:12800 Maroteaux-Lamy syndrome, arylsulfatase B deficiency, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome (disorder), deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
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