Reaction: Defective IDS does not hydrolyse dermatan sulfate (Chebi:63517 chain)
- in pathway: MPS II - Hunter syndrome
Mucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked genetic disorder caused by defects in the gene encoding the enzyme iduronate 2-sulfatase (IDS, MIM:300823). This causes an accumulation of the GAGs dermatan sulfate and heparan sulfate and their excessive excretion in urine. MPS II has a broad range of severity with variable mental retardation and life expectancy. This disease has a prevelence of approximately 1 in 170,000 male births (Muenzer et al. 2009). The R468 codon may be a mutational hot-spot, as it has been noted in patients with diverse ethnic origins: R468W (Crotty et al. 1992), R468L and R468Q (Isogai et al. 1998). R443X is also a frequent mutation (Froissart et al. 1998).
Reaction - small molecule participants:
H2O [lysosomal lumen]
ChEBI:63517 chain [lysosomal lumen]
Reactome.org reaction link: R-HSA-2262743
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Reaction input - small molecules:
water
beta-D-GalNAc-(1->4)-beta-D-IdoA2S-(1->3)-beta-D-GalNAc4S-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl-yl group
Reaction output - small molecules:
Reactome.org link: R-HSA-2262743