Defective ARSB does not hydrolyse C4S/C6S chains

Stable Identifier
R-HSA-2282889
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
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Defective ARSB does not hydrolyse C4S/C6S chains
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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. 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
8116615 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes

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

Am. J. Hum. Genet. 1994
8651289 Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients

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

Am. J. Hum. Genet. 1996
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

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

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

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

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

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

Hum. Mutat. 2004
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Catalyst Activity

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

Physical Entity
ARSB mutants:Ca2+ [lysosomal lumen] (Homo sapiens)
Activity
N-acetylgalactosamine-4-sulfatase activity (GO:0003943)
Normal reaction
ARSB hydrolyses C4S/C6S chains (Homo sapiens)
Functional status

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

Normal Entity
Disease Entity
Status
Disease
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)
Authored
Jassal, B  (2012-05-28)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-05-28)
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