Functional consequences of ferroportin 1 mutations

XB Liu, F Yang, DJ Haile - Blood Cells, Molecules, and Diseases, 2005 - Elsevier
The cellular iron exporter ferroportin 1 is expressed in both the duodenum and in cells of the
mononuclear phagocyte system. Expression of ferroportin 1 protein on the cell surface is
regulated by the interaction of ferroportin 1 with hepcidin. Hepcidin treatment of cells results
in internalization and lysosomal degradation of cell surface ferroportin 1. Recently,
ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified. HFE4
differs from classical hemochromatosis in that there is a greater amount of macrophage iron …