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Literature summary for 3.2.1.76 extracted from

  • Laradi, S.; Tukel, T.; Erazo, M.; Shabbeer, J.; Chkioua, L.; Khedhiri, S.; Ferchichi, S.; Chaabouni, M.; Miled, A.; Desnick, R.J.
    Mucopolysaccharidosis I: alpha-L-iduronidase mutations in three tunisian families (2005), J. Inherit. Metab. Dis., 28, 1019-1026.
    View publication on PubMed
Search for more literature for 3.2.1.76

Protein Variants

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

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 enzyme deficiency 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 enzyme deficiency causes the lysosomal storage disorder mucopolysaccharidosis type I, MPSI Homo sapiens ?
-
 ?

Synonyms

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