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Literature summary for 3.1.6.13 extracted from

  • Parkinson, E.J.; Muller, V.; Hopwood, J.J.; Brooks, D.A.
    Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients (2004), Mol. Genet. Metab., 81, 58-64.
    View publication on PubMed
Search for more literature for 3.1.6.13

Application

Application Comment Organism
medicine the inherited deficiency results in mucopolysaccharidosis type II Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information Q80X, R88C, c145-161del insT, D198G, c247delG, L259P, S333L, E341K, W345X, R468Q, P480R, R48P mutations are identified in Hunter syndrome patients Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the enzyme is involved in the sequential degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
plasma
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the enzyme is involved in the sequential degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate Homo sapiens ?
-
 ?