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Literature summary for 3.2.1.76 extracted from

  • Hein, L.K.; Bawden, M.; Muller, V.J.; Sillence, D.; Hopwood, J.J.; Brooks, D.A.
    alpha-L-Iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients (2004), J. Mol. Biol., 338, 453-462.
    View publication on PubMed
Search for more literature for 3.2.1.76

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
 gene IDUA
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
alpha-L-iduronidase
-
 Homo sapiens
IDUA
-
 Homo sapiens