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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-5-19
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0001-2815
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
263-75
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12753664-Animals,
pubmed-meshheading:12753664-Disease Models, Animal,
pubmed-meshheading:12753664-Hemochromatosis,
pubmed-meshheading:12753664-Histocompatibility Antigens Class I,
pubmed-meshheading:12753664-Humans,
pubmed-meshheading:12753664-Iron,
pubmed-meshheading:12753664-Linkage Disequilibrium,
pubmed-meshheading:12753664-Membrane Proteins,
pubmed-meshheading:12753664-Mice,
pubmed-meshheading:12753664-Mice, Knockout,
pubmed-meshheading:12753664-Mutation
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pubmed:year |
2003
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pubmed:articleTitle |
HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I.
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pubmed:affiliation |
Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar, OPorto, Portugal.
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pubmed:publicationType |
Journal Article,
Review,
Research Support, Non-U.S. Gov't
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