Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding

J Clin Invest. 2001 Aug;108(4):521-2. doi: 10.1172/JCI13739.
No abstract available

Publication types

  • Comment

MeSH terms

  • Amino Acid Substitution*
  • Animals
  • Carrier Proteins / genetics*
  • Carrier Proteins / physiology
  • Cation Transport Proteins*
  • Ceruloplasmin / deficiency
  • Ceruloplasmin / genetics
  • Genes, Dominant*
  • Genetic Heterogeneity
  • HLA Antigens / genetics
  • HLA Antigens / metabolism
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Histocompatibility Antigens Class I / metabolism
  • Homeostasis
  • Humans
  • Iron / metabolism
  • Iron Overload / genetics
  • Iron Overload / metabolism
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mice
  • Mice, Knockout
  • Mononuclear Phagocyte System / metabolism
  • Mutation, Missense*
  • Zebrafish / embryology
  • Zebrafish / genetics
  • Zebrafish / metabolism

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Hfe protein, mouse
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • metal transporting protein 1
  • Iron
  • Ceruloplasmin