Gene Symbol | GUSB |
Entrez Gene ID | 2990 |
Full Name | glucuronidase beta |
Synonyms | BG,MPS7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mucopolysaccharidosis VII, 253220 (3) |