Protein Variants | Comment | Organism |
---|---|---|
I270S/P533R/R268X | identification of naturally occurring mutation of a tunesian patient, homoallelic for P533R mutation, heteroallelic for missense mutation I270S and nonsense mutation R268X, and a deletion mutation in exon 13, the mutations are involved in development of the lysosomal storage disorder mucopolysaccharidosis type I, MPSI, the patient shows the Huler phenotype, overview | Homo sapiens |
P533R | identification of naturally occurring mutation of two tunesian patient, homoallelic for P533R mutation, the mutation is involved in development of the lysosomal storage disorder mucopolysaccharidosis type I, MPSI, the patient shows the Huler-Scheie phenotype, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | enzyme deficiency causes the lysosomal storage disorder mucopolysaccharidosis type I, MPSI | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene IDUA | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | enzyme deficiency causes the lysosomal storage disorder mucopolysaccharidosis type I, MPSI | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
IDUA | - |
Homo sapiens |