Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of naturally occurring mutations of residues Q70, W402, R268, Q400, Y343, W180 to premature stop codons, mutations are involved in development of the lysosomal storage disorder mucopolysaccharidosis type I, MPSI, natural stop codon read-through and clinical MPSI 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 | the enzyme is involved in the sequential degradation of heparan sufate and dermatan sulfate, enzyme deficiency results in the accumulation and urinary secretion of partially degraded glycosaminoglycans and 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 | the enzyme is involved in the sequential degradation of heparan sufate and dermatan sulfate, enzyme deficiency results in the accumulation and urinary secretion of partially degraded glycosaminoglycans and causes the lysosomal storage disorder mucopolysaccharidosis type I, MPSI | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
alpha-L-iduronidase | - |
Homo sapiens |
IDUA | - |
Homo sapiens |