NP_942002.1
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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 2
NCBI Official Synonym Full Names
arylsulfatase B
NCBI Protein Information
arylsulfatase B; N-acetylgalactosamine-4-sulfatase
UniProt Protein Name
Arylsulfatase B
UniProt Synonym Protein Names
N-acetylgalactosamine-4-sulfatase; G4S
UniProt Synonym Gene Names
UniProt Entry Name
ARSB_HUMAN
NCBI Summary for ASB
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. [provided by RefSeq, Jul 2008]
UniProt Comments for ASB
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: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.1.6.12
Chromosomal Location of Human Ortholog: 5q14.1
Cellular Component: Golgi apparatus; lysosomal lumen; cell surface; rough endoplasmic reticulum; mitochondrion; lysosome; endoplasmic reticulum lumen
Molecular Function: arylsulfatase activity; N-acetylgalactosamine-4-sulfatase activity; metal ion binding
Biological Process: chondroitin sulfate metabolic process; lysosomal transport; central nervous system development; cellular protein metabolic process; sphingolipid metabolic process; glycosaminoglycan metabolic process; lysosome organization and biogenesis; response to estrogen stimulus; chondroitin sulfate catabolic process; carbohydrate metabolic process; response to methylmercury; autophagy; pathogenesis; glycosphingolipid metabolic process; post-translational protein modification; response to nutrient; response to pH
Disease: Mucopolysaccharidosis Type Vi
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Products associated with ASB elisa kit
Pathways associated with ASB elisa kit
Diseases associated with ASB elisa kit
Organs/Tissues associated with ASB elisa kit
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