Article
The molecular basis of hepcidin-resistant hereditary hemochromatosis.
Blood - 9 Jul 2009
Fernandes Augustine, Preza Gloria C, Phung Yen, De Domenico Ivana, Kaplan Jerry, Ganz Tomas, Nemeth Elizabeta
Abstract excerpt
The interaction between the hormone hepcidin and the iron exporter ferroportin (Fpn) regulates plasma iron concentrations. Hepcidin binds to Fpn and induces its internalization and degradation, resulting in decreased iron efflux from cells into plasma. Fpn mutations in N144, Y64N, and C326 residue cause autosomal dominant disease with parenchymal iron overload, apparently due to the resistance of mutant Fpn to...
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