rs749695052
This variant is located in the GUSB gene.
▶ClinVar annotation
About 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. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
View all GUSB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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