Article
Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis.
Blood - 1 Jan 2005
Kawabata Hiroshi, Fleming Robert E, Gui Dorina, Moon Seo Y, Saitoh Takayuki, O'Kelly James, Umehara Yutaka, Wano Yuji, Said Jonathan W, Koeffler H Phillip
Abstract excerpt
Transferrin receptor 2 (TfR2) is a membrane glycoprotein that mediates cellular iron uptake from holotransferrin. Homozygous mutations of this gene cause one form of hereditary hemochromatosis in humans. We recently reported that homozygous TfR2(Y245X) mutant mice, which correspond to the TfR2(Y2...
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