2. Academic Validation
  3. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

  • Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053.
Antonella Roetto 1,  George Papanikolaou,  Marianna Politou,  Federica Alberti,  Domenico Girelli,  John Christakis,  Dimitris Loukopoulos,  Clara Camaschella
Affiliations

Affiliation

  • 1 Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy.
PMID: 12469120 DOI: 10.1038/ng1053
Abstract

Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis.

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