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Literature summary for 3.1.6.13 extracted from

  • Bonuccelli, G.; Di Natale, P.; Corsolini, F.; Villani, G.; Regis, S.; Filocamo, M.
    The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II (2001), Biochim. Biophys. Acta, 1537, 233-238.
    View publication on PubMed

Application

Application Comment Organism
medicine in humans, the inherited deficiency of the enzyme activity results in mucopolysaccharidosis type II, the Hunter syndrome Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression of identified mutations in COS 7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information K347T, N265I, 473delTCC, 533delTT mutations are identified in four out of 28 Hunter syndrome patients Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
55000
-
x * 55000, Western blot analysis, wild-type enzyme 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 responsible for heparin sulfate and dermatan sulfate degradation ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the enzyme is responsible for heparin sulfate and dermatan sulfate degradation Homo sapiens ?
-
?

Subunits

Subunits Comment Organism
? x * 55000, Western blot analysis, wild-type enzyme Homo sapiens