Arylsulfatase B (ARSB) Antibody – Rabbit Polyclonal

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]

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