HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I.
HFE was discovered as the hereditary hemochromatosis (HH) gene. It is located on chromosome 6 (6p21.3), 4Mb telomeric to the HLA-A locus, and its product has a structure similar to MHC class I molecules. HFE encodes two frequent mutations: C282Y and H63D. One of these (C282Y) is present in a large proportion of Caucasian HH patients. HFE has a tissue distribution compatible with a role in iron absorption (intestine), recycling (macrophages) and transport to the fetus (placenta).
Cardoso
C S
CS
Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar, OPorto, Portugal.
de Sousa
M
M
D000818:Animals; D004195:Disease Models, Animal; D006432:Hemochromatosis / Q000235:genetics / Q000276:immunology / Q000378:metabolism*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron