靶标:
GUSB
产品别名:
BG; MPS7; GUSB; glucuronidase beta; glucuronidase beta; beta-glucuronidase; beta-D-glucuronidase; beta-G1; β葡萄糖醛酸苷酶; 葡萄糖苷酸酶β(GUSb);
背景信息:
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],