HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I

C S Cardoso; M de Sousa

doi:10.1034/j.1399-0039.2003.00065.x

HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I

Tissue Antigens. 2003 Apr;61(4):263-75. doi: 10.1034/j.1399-0039.2003.00065.x.

Authors

C S Cardoso¹, M de Sousa

Affiliation

¹ Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar, OPorto, Portugal.

PMID: 12753664
DOI: 10.1034/j.1399-0039.2003.00065.x

Abstract

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).

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Disease Models, Animal
Hemochromatosis / genetics
Hemochromatosis / immunology
Hemochromatosis / metabolism*
Hemochromatosis Protein
Histocompatibility Antigens Class I / genetics
Histocompatibility Antigens Class I / metabolism*
Humans
Iron / metabolism*
Linkage Disequilibrium
Membrane Proteins / genetics
Membrane Proteins / metabolism*
Mice
Mice, Knockout
Mutation

Substances

HFE protein, human
Hemochromatosis Protein
Hfe protein, mouse
Histocompatibility Antigens Class I
Membrane Proteins
Iron