Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation
William J. H. Griffiths, Roman Mayr, Ian McFarlane, Martin Hermann, David J. Halsall, Heinz Zoller, Timothy M. Cox – 19 October 2009 – Mutations in the SLC40A1 gene, which encodes ferroportin, are associated with autosomal dominant hemochromatosis. Ferroportin is inhibited directly by hepcidin, a key iron‐regulatory peptide, and functional consequences of SLC40A1 mutations account for observed phenotypic differences in patients with ferroportin disease.