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Description for Protein IDUA

iduronidase, alpha-L-
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.76
    KEGG - Orthology:
    K01217
    KEGG - Pathway(s):
    hsa00531; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Iduronidase alpha-L
    Approved Symbol:
    IDUA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Hurler syndrome(Pd);
  • Hurler-Scheie syndrome(Pd);
  • Idua pseudodeficiency(Pd);
  • Scheie syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02016 Entrez Gene ID: 3425 OMIM ID: 252800 Swissprot Accession: P35475;