IDUA 蛋白
(Iduronidase, alpha-L- (IDUA))
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].
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Aliases for IDUA 蛋白
iduronidase, alpha-L- (IDUA) 蛋白iduronidase, alpha-L- (Idua) 蛋白
iduronidase, alpha-L- L homeolog (idua.L) 蛋白
iduronidase, alpha-L- (idua) 蛋白
alpha-L-iduronidase (LOC5564727) 蛋白
6030426D08 蛋白
alpha-L-iduronidase 蛋白
IDA 蛋白
IDUA 蛋白
MGC80842 蛋白
MPS1 蛋白
si:ch211-12e13.9 蛋白
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