Arylsulfatase B

Title: Arylsulfatase B
CAS Registry Number: 55354-43-3
CAS Name: Acetylgalactosamine 4-sulfatase
Additional Names: sulfatase B; EC
Literature References: Lysosomal enzyme that hydrolyzes the 4-sulfate ester of N-acetylgalactosamine at the nonreducing terminus of dermatan sulfate and chondroitin-4-sulfate. Genetic deficiency of the enzyme results in the lysosomal storage disorder, mucopolysaccharidosis-VI (MPS-VI), also known as Maroteaux-Lamy syndrome. Purification from ox liver: A. B. Roy, Biochem. J. 57, 30 (1954); from human liver: K. S. Dodgson, C. H. Wynn, ibid. 68, 387 (1958). Identification of role in disease: D. A. Stumpf, J. H. Austin, Trans. Amer. Neurol. Assoc. 97, 29 (1972). Identification of natural substrate: A. A. Farooqui, Experientia 32, 1242 (1976). Prepn of recombinant human form and uptake by human fibroblast cells: D. S. Anson et al., Biochem. J. 284, 789 (1992). Molecular structure and characterization of active site: C. S. Bond et al., Structure 5, 277 (1997).
Derivative Type: Galsulfase
CAS Registry Number: 552858-79-4
CAS Name: Acetylgalactosamine 4-sulfatase (human CSL4S-342 cell)
Additional Names: aryplase; rhASB
Manufacturers' Codes: BM-102
Trademarks: Naglazyme (BioMarin)
Literature References: Human arylsulfatase B produced by recombinant DNA technology in Chinese hamster ovary cells. Glycoprotein comprised of 495 amino acids; mol wt ~56 kDa. Prepn: C. M. Starr, WO 0183722 (2001 to BioMarin). Clinical evaluation in children with MPS-VI: P. Harmatz et al., J. Pediatr. 144, 574 (2004). Review: G. Yogalingam, Curr. Opin. Invest. Drugs 5, 1111-1120 (2004).
Therap-Cat: Enzyme replacement therapy for mucopolysaccharidosis-VI.
Keywords: Enzyme Replacement Therapy.
Arzoxifene Asaprol Asarones Asarum Ascaridole

arylsulfatase B
Arylsulfatase B.jpg
Crystallographic structure of putative tetrameric arylsulfatase from Escherichia coli.[1]
Symbol ARSB
Entrez 411
HUGO 714
OMIM 253200
RefSeq NM_000046
UniProt P15848
Other data
Locus Chr. 5 p11-q13

Arylsulfatase B (N-acetylgalactosamine-4-sulfatase, chondroitinsulfatase, chondroitinase, acetylgalactosamine 4-sulfatase, N-acetylgalactosamine 4-sulfate sulfohydrolase, EC is an enzyme associated with mucopolysaccharidosis VI.

Arylsulfatase B is among a group of arylsulfatase enzymes present in the lysosomes of the liver, pancreas, and kidneys of animals. The purpose of the enzyme is to hydrolyze sulfates in the body. ARSB does this by breaking down glycosaminoglycans(GAGs), which are large sugar molecules in the body. ARSB targets two GAGs in particular: dermatan sulfate and chondroitin sulfate.[2]

Over 130 mutations to ARSB have been found, each leading to a deficiency in the body. In most cases, the mutation occurs on a single nucleotide in the sequence. An arylsulfatase B deficiency can lead to an accumulation of GAGs in lysosomes,[2] which in turn can lead to Maroteaux–Lamy syndrome, or mucopolysaccharidosis VI.