Article
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.
Blood - 15 May 2005
Schimanski Lisa M, Drakesmith Hal, Merryweather-Clarke Alison T, Viprakasit Vip, Edwards Jon P, Sweetland Emma, Bastin Judy M, Cowley Diana, Chinthammitr Yingyong, Robson Kathryn J H, Townsend Alain R M
Abstract excerpt
Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN). Known as the "ferroportin disease," this condition is typically characterized by high serum ferritin, reduced transferrin saturation, and macrophage iron loading. Previously FPN expression in vitro has been shown to cause iron deficiency in human cell lines and mediate iron export from Xenopus oocytes. We...
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