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Description for Protein HAMP

hepcidin antimicrobial peptide
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Liver expressed antimicrobial peptide; LEAP 1; Putative liver tumor regressor; PLTR; HEPC; Hepcidin
    Approved Symbol:
    HAMP
    (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:

  • Hemochromatosis, juvenile(Pd);
  • Hemochromatosis, juvenile, digenic(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 1
  • Additional Identifiers:

    HPRD: 05925 Entrez Gene ID: 57817 OMIM ID: 606464 Swissprot Accession: P81172