Protein Variants | Comment | Organism |
---|---|---|
A79V | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
D203N | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
L346R | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
Q584X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
Q60X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
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 |
R619G | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
T364M | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
W402X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
Y343X | the missense mutation is associated with mucopolysaccharidosis type I | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-alpha-L-iduronide + H2O | - |
Homo sapiens | 4-methylumbelliferone + alpha-L-iduronic acid | - |
? |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
IDUA | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mucopolysaccharidosis type I arises from a deficiency in the alpha-L-iduronidase enzyme | Homo sapiens |