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Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.

Human mutation - 1 Nov 2013

Détivaud Lénaïck, Island Marie-Laure, Jouanolle Anne-Marie, Ropert Martine, Bardou-Jacquet Edouard, Le Lan Caroline, Mosser Annick, Leroyer Patricia, Deugnier Yves, David Véronique, Brissot Pierre, Loréal Olivier

Abstract excerpt

Ferroportin (FPN) mediates iron export from cells and this function is modulated by serum hepcidin. Mutations in the FPN gene (SLC40A1) lead to autosomal dominant iron overload diseases related either to loss or to gain of function, and usually characterized by normal or low transferrin saturation versus elevated transferrin saturation, respectively. However, for the same mutation, the phenotypic expression may...

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PMID: 23943237
DOI: 10.1002/humu.22396

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