Defective IDS does not hydrolyse Heparan sulfate chain(5)

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
1284597 Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

Whitley, CB, Anderson, RA, Crotty, PL, Braun, SE

Hum Mol Genet 1992
19901005 Multidisciplinary management of Hunter syndrome

Molter, DW, Wraith, E, Wood, RE, Eng, CM, Schwartz, IV, Harmatz, P, Scarpa, M, Muñoz Rojas, MV, Kampmann, C, Koseoglu, ST, Kamin, W, Ogilvie, JW, Ramaswami, U, Muenzer, J, Parini, R, Guffon, NH, Martin, RA, Link, B, Escolar, ML, Beck, M, Giugliani, R

Pediatrics 2009
9660053 Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Millat, G, Birot, AM, Bozon, D, Bonnet, V, Froissart, R, Cudry, S, Maire, I, Bouton, O

Clin Genet 1998
9501270 Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

Kondo, N, Yamada, Y, Isogai, K, Orii, T, Fukao, T, Tomatsu, S, Sukegawa, K, Fukuda, S, Song, XQ

J Inherit Metab Dis 1998
Catalyst Activity

iduronate-2-sulfatase activity of Ca2+:Ca2+:IDS mutants:IDS mutants [lysosomal lumen]

Normal reaction
Functional status

Loss of function of Ca2+:Ca2+:IDS mutants:IDS mutants [lysosomal lumen]

Name Identifier Synonyms
mucopolysaccharidosis II DOID:12799 Hunter's syndrome, mucopolysaccharidosis type II, Hunter's syndrome, Mucopolysaccharidosis, MPS-II (disorder), deficiency of iduronate-2-sulphatase
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