Gene Symbol | ARSB |
Entrez Gene ID | 411 |
Full Name | arylsulfatase B |
Synonyms | ASB,G4S,MPS6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) |