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GUSB glucuronidase beta

Also known as: BG; MPS7

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]

Associated conditions

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DescriptionTests
Mucopolysaccharidosis type VII
MedGen: C0085132OMIM: 253220GeneReviews: Not available
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Genomic context

Location:
7q11.21
Sequence:
Chromosome: 7; NC_000007.14 (65960684..65982314, complement)
Total number of exons:
12

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