靶标:
IDUA
产品别名:
IDA; MPS1; MPSI; IDUA; alpha-L-iduronidase; alpha-L-iduronidase; alpha-L-iduronidase; iduronidase alpha-L-; mucopolysaccharidosis type I; α-L-艾杜糖苷酶; 己醛醣酸盐水解酵素; 汗酸酶αL(IDUa);
背景信息:
This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008],