Arylsulfatase B (ARSB)

ASB; G4S; N-acetylgalactosamine-4-sulfatase

SPN	Q194
HGNC	714
MGI	88075
PubMed	22428001
RGD	2158
UniProt	P15848
Wiki	ARSB

Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

The deduced 533-residue protein has 6 potential N-glycosylation sites. Comparison of the predicted amino acid sequences of arylsulfatases A (ARSA), B, and C (ARSC) demonstrated regions of identity, particularly in their N termini.

Reference

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Genomics 6:149-158(1990) [PubMed] [Europe PMC] [Abstract]

"Structure of the human arylsulfatase B gene."
Biol. Chem. Hoppe-Seyler 374:327-335(1993) [PubMed] [Europe PMC] [Abstract]

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"Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones."
Biochem. Int. 24:209-215(1991) [PubMed] [Europe PMC] [Abstract]

"Components and proteolytic processing sites of arylsulfatase B from human placenta."
Biochim. Biophys. Acta 1159:243-247(1992) [PubMed] [Europe PMC] [Abstract]

"A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency."
Cell 82:271-278(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency."
Hum. Mutat. 23:576-581(2004) [PubMed] [Europe PMC] [Abstract]

"Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation."
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"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
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"Structure of a human lysosomal sulfatase."
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"Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B."
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"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."
Am. J. Hum. Genet. 50:795-800(1992) [PubMed] [Europe PMC] [Abstract]

"Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes."
Am. J. Hum. Genet. 54:454-463(1994) [PubMed] [Europe PMC] [Abstract]

"Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)."
Hum. Genet. 93:259-264(1994) [PubMed] [Europe PMC] [Abstract]

"N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI."
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"Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS6 patients."
Am. J. Hum. Genet. 58:1127-1134(1996) [PubMed] [Europe PMC] [Abstract]

"Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis."
Hum. Mutat. 11:410-410(1998) [PubMed] [Europe PMC] [Abstract]

"Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome."
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"A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)."
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