Review
doi: 10.1034/j.1399-0039.2003.00065.x.
HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I
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- PMID: 12753664
- DOI: 10.1034/j.1399-0039.2003.00065.x
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Review
HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I
Tissue Antigens.
2003 Apr.
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).
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