Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis

Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053. Epub 2002 Dec 9.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Antimicrobial Cationic Peptides / chemistry
  • Antimicrobial Cationic Peptides / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Female
  • Hemochromatosis / genetics*
  • Hepcidins
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational

Substances

  • Antimicrobial Cationic Peptides
  • HAMP protein, human
  • Hepcidins

Associated data

  • OMIM/235200
  • OMIM/602390
  • OMIM/604250
  • OMIM/606069
  • OMIM/606464