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NCBI Description of GUSB |
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. There are many pseudogenes of this locus in the human genome. |
Community Annotation of GUSB Add / Edit GUSB: Annotations
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Figure notes
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Data details