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Literature summary 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

Cloned(Commentary)

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

Protein Variants

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.76 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.76 4-methylumbelliferyl-alpha-L-iduronide + H2O
-
 Homo sapiens 4-methylumbelliferone + alpha-L-iduronic acid
-
 ?
3.2.1.76 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
-
 ?
3.2.1.76 additional information involved in the degradation of dermatan sulfate and heparan sulfate, deficiency in alpha-L-iduronidase causes mucopolysaccharidosis type I Homo sapiens ?
-
 ?