Aliases for GUSB Gene
External Ids for GUSB Gene
Previous GeneCards Identifiers for GUSB Gene
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]
GeneCards Summary for GUSB Gene
GUSB (Glucuronidase Beta) is a Protein Coding gene. Diseases associated with GUSB include Mucopolysaccharidosis Vii and Hydrops Fetalis. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include receptor binding and hydrolase activity, hydrolyzing O-glycosyl compounds.
UniProtKB/Swiss-Prot for GUSB Gene
Plays an important role in the degradation of dermatan and keratan sulfates.