[Genetic hemochromatosis and the HFE gene: from molecular genetics to clinical diagnosis].
More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterozygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.
1. Medizinische Klinik und Poliklinik, Johannes-Gutenberg-Universität Mainz. hoehler@mail.uni-mainz.de
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D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D005805:Genes, MHC Class I / Q000235:genetics*; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D051379:Mice; D018345:Mice, Knockout; D008967:Molecular Biology; D020125:Mutation, Missense / Q000235:genetics
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins