Article
Impact of D181V and A69T on the function of ferroportin as an iron export pump and hepcidin receptor.
Biochimica et biophysica acta - 1 Sept 2014
Praschberger Roman, Schranz Melanie, Griffiths William J H, Baumgartner Nadja, Hermann Martin, Lomas David J, Pietrangelo Antonello, Cox Timothy M, Vogel Wolfgang, Zoller Heinz
Abstract excerpt
Mutations in the only known mammalian iron exporter ferroportin cause a rare iron overload disorder termed ferroportin disease. Two distinct clinical phenotypes are caused by different disease mechanisms: mutations in ferroportin either cause loss of iron export function or gain of function due to resistance to hepcidin, the peptide hormone that normally downregulates ferroportin. The aim of the present study was...
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