A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.

Abstract

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.

MeSH terms

  • Amino Acid Sequence
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Female
  • Ferritins / blood
  • Genes, Dominant
  • Genetic Linkage
  • Hemochromatosis / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Sequence Homology, Amino Acid
  • Transferrin / analysis

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Transferrin
  • metal transporting protein 1
  • Ferritins