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Description for Protein GNS

glucosamine (N-acetyl)-6-sulfatase
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.1.6.14
    KEGG - Orthology:
    K01137
    KEGG - Pathway(s):
    hsa00531; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Glucosamine 6 sulfatase; G6S; MGC21274
    Approved Symbol:
    GNS
    (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:

  • Mucopolysaccharidosis type IIId(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 09637 Entrez Gene ID: 2799 OMIM ID: 607664 Swissprot Accession: P15586; Q7Z3X3;