Arylsulfatase B

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ARSB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FSU
Identifiers
Aliases	ARSB, arylsulfatase B, ASB, G4S, MPS6
External IDs	OMIM: 611542; MGI: 88075; HomoloGene: 73870; GeneCards: ARSB; OMA:ARSB - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q14.1 Start 78,777,209 bp[1] End 78,986,087 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 C3|13 47.88 cM Start 93,908,138 bp[2] End 94,079,524 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon monocyte stromal cell of endometrium ventricular zone gonad tendon of biceps brachii right coronary artery thoracic aorta ascending aorta Descending thoracic aorta Top expressed in molar body of femur parotid gland suprachiasmatic nucleus median eminence human kidney right kidney globus pallidus piriform cortex hippocampus proper More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding arylsulfatase activity catalytic activity N-acetylgalactosamine-4-sulfatase activity sulfuric ester hydrolase activity hydrolase activity Cellular component rough endoplasmic reticulum Golgi apparatus endoplasmic reticulum lumen cell surface lysosomal lumen mitochondrion lysosome extracellular exosome extracellular region azurophil granule lumen ficolin-1-rich granule lumen Biological process glycosphingolipid metabolic process response to nutrient post-translational protein modification response to estrogen autophagy regulation of epithelial cell migration central nervous system development colon epithelial cell migration positive regulation of neuron projection development response to pH chondroitin sulfate catabolic process lysosomal transport metabolism response to methylmercury lysosome organization neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 411 11881 Ensembl ENSG00000113273 ENSMUSG00000042082 UniProt P15848 P50429 RefSeq (mRNA) NM_000046 NM_198709 NM_009712 RefSeq (protein) NP_000037 NP_942002 NP_033842 Location (UCSC) Chr 5: 78.78 – 78.99 Mb Chr 13: 93.91 – 94.08 Mb PubMed search [3] [4]
Wikidata
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arylsulfatase B
Crystallographic structure of putative tetrameric arylsulfatase from Escherichia coli.[5]
Identifiers
Symbol	ARSB
NCBI gene	411
HGNC	714
OMIM	253200
RefSeq	NM_000046
UniProt	P15848
Other data
EC number	3.1.6.12
Locus	Chr. 5 p11-q13
Search for Structures Swiss-model Domains InterPro

Arylsulfatase B (N-acetylgalactosamine-4-sulfatase, chondroitinsulfatase, chondroitinase, acetylgalactosamine 4-sulfatase, N-acetylgalactosamine 4-sulfate sulfohydrolase, EC 3.1.6.12) is an enzyme associated with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome).

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.^[7]

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,^[7] which in turn can lead to mucopolysaccharidosis VI.

Used as a pharmaceutical drug, the enzyme is known under the International Nonproprietary Name galsulfase and is sold under the brand name Naglazyme.^[8][9][10] Galsulfase was approved for medical use in the United States in May 2005 and in European Union in January 2006.^[11][10] Galsulfase is indicated for long-term enzyme-replacement therapy in people with a confirmed diagnosis of mucopolysaccharidosis VI (MPS VI; N-acetylgalactosamine-4-sulfatase deficiency; Maroteaux-Lamy syndrome).^[10]