NP_000037.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
45,996 Da
NCBI Official Full Name
arylsulfatase B isoform 1
NCBI Official Synonym Full Names
arylsulfatase B
NCBI Protein Information
arylsulfatase B
UniProt Protein Name
Arylsulfatase B
UniProt Synonym Protein Names
N-acetylgalactosamine-4-sulfatase; G4S
UniProt Synonym Gene Names
NCBI Summary for 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 targeted 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. [provided by RefSeq, Dec 2016]
UniProt Comments for ARSB
ARSB: Defects in ARSB are the cause of mucopolysaccharidosis type 6 (MPS6); also known as Maroteaux-Lamy syndrome. MPS6 is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. Arylsulfatase B activity is defective in multiple sulfatase deficiency (MSD). A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys- 91 that is not converted to 3-oxoalanine. Belongs to the sulfatase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.6.12; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 5q14.1
Cellular Component: cell surface; endoplasmic reticulum lumen; extracellular region; Golgi apparatus; lysosomal lumen; lysosome; mitochondrion; rough endoplasmic reticulum
Molecular Function: arylsulfatase activity; metal ion binding; N-acetylgalactosamine-4-sulfatase activity
Biological Process: autophagy; central nervous system development; chondroitin sulfate catabolic process; glycosphingolipid metabolic process; lysosomal transport; lysosome organization and biogenesis; neutrophil degranulation; post-translational protein modification; response to estrogen; response to methylmercury; response to nutrient; response to pH
Disease: Mucopolysaccharidosis Type Vi
Research Articles on ARSB
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Products associated with anti-ARSB antibody
Pathways associated with anti-ARSB antibody
Diseases associated with anti-ARSB antibody
Organs/Tissues associated with anti-ARSB antibody
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