GUSB glucuronidase beta [ Homo sapiens (human) ]
Source: NCBI Gene (ID 2990)
Source: NCBI Gene (ID 2990)
Symbol: GUSB
Full name: glucuronidase beta
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
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]
Expression: Ubiquitous expression in bone marrow (RPKM 37.4), placenta (RPKM 30.1) and 25 other tissues
Orthologs: mouse
Gene size: 21530bp
Exon count: 12