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GUSB / Beta Glucuronidase is a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.
Gene Name: | glucuronidase, beta |
Synonyms: | GUSB, Beta-D-glucuronidase, Beta-G1, Beta-glucuronidase, Beta Glucuronidase, BG, Glucuronidase, beta, MPS7 |
Target Sequences: | NM_000181 |
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