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Literature summary extracted from

  • Sun, L.; Li, C.; Song, X.; Zheng, N.; Zhang, H.; Dong, G.
    Three novel alpha-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families (2011), Genet. Mol. Biol., 34, 195-200.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.76 A79V the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 D203N the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 L346R the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 Q584X the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 Q60X the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 R363H the missense mutation is associated with hepatosplenomegaly, joint stiffness, corneal clouding, and slightly mental delay in mucopolysaccharidosis type I patients and displays 2.3% of wild type activity Homo sapiens
3.2.1.76 R619G the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 T364M the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 W402X the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens
3.2.1.76 Y343X the missense mutation is associated with mucopolysaccharidosis type I Homo sapiens

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
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.76 alpha-L-iduronidase
-
 Homo sapiens
3.2.1.76 IDUA
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.2.1.76 malfunction mucopolysaccharidosis type I arises from a deficiency in the alpha-L-iduronidase enzyme Homo sapiens