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Literature summary for 3.2.1.76 extracted from

  • Hein, L.K.; Hopwood, J.J.; Clements, P.R.; Brooks, D.A.
    The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation (2003), Biochim. Biophys. Acta, 1639, 95-103.
    View publication on PubMed
Search for more literature for 3.2.1.76

Cloned(Commentary)

Cloned (Comment) Organism
expressed in CHO-K1 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
R89Q protein level is lowered to 10% of normal control Homo sapiens
R98W strongly reduced activity, protein level not effected Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
extracellular with transfected CHO-K1 cells less than 10% of enzyme is found to be secreted into the medium Homo sapiens
-
-
lysosome
-
 Homo sapiens 5764
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens involved in the degradation of dermatan sulfate and heparan sulfate, deficiency in alpha-L-iduronidase causes mucopolysaccharidosis type I ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-alpha-L-iduronide + H2O
-
 Homo sapiens 4-methylumbelliferone + alpha-L-iduronic acid
-
 ?
alpha-L-iduronysyl-(alpha-1,4)2,5-anhydro-D-mannitol-6-sulfate + H2O
-
 Homo sapiens 2,5-anhydro-D-mannitol 6-sulfate + alpha-L-iduronic acid
-
 ?
additional information involved in the degradation of dermatan sulfate and heparan sulfate, deficiency in alpha-L-iduronidase causes mucopolysaccharidosis type I Homo sapiens ?
-
 ?