Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolys...

created [InstanceEdit:2314587] Jassal, B, 2012-06-07
dbId 2314579
displayName Arylsulfatase B using calcium cofactor (ARSB:Ca2+) hydrolys...
modified [InstanceEdit:9036075] Jassal, Bijay, 2018-01-29
schemaClass Summation
text 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).
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