Protein Name | glucuronidase beta |
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Organism | Homo sapiens |
Gene ID | 2990 |
Gene Symbol | GUSB |
UniProt | P08236 (BGLR_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
859
Total Number of Articles : 981 |
Description |
glucuronidase beta |
Gene Summary |
This gene encodes 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.[provided by RefSeq, May 2014] |
synonyms |
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Properties | |