There is some phenotypic variation with haemojuvelin, hepcidin or ferroportin
mutations presenting at an earlier age.
Hepcidin then is not available to block iron transport through the ferroportin
channel into the bloodstream.
and hepcidin, the original gene dyad they found, control iron export.
Induction of FPN1 transcription by MTF-1 reveals a role for ferroportin
in transition metal efflux.
IL-6 impedes iron oscillation from body stores by down-regulating the expression of ferroportin
65) (Type IV hereditary hemochromatosis, ie, ferroportin
deficiency, results in diffuse and exclusively reticuloendothelial iron, but that genetic condition is not known to actually cause disease.
Evidence suggests that the pathophysiologic basis of excess iron absorption is due to high levels of expression of divalent metal transporter-1 that transports iron into enterocytes in the proximal intestine, and ferroportin
that exports iron to the circulation.
hemochromatosis, hepcidin or ferroportin
deficiency, [beta]-thalassemia, liver diseases, end-stage renal disease, diabetes, and myelodysplastic syndrome (1).
2004b) Hepcidin regulates cellular iron efflux by binding to ferroportin
and inducing its internalization.
Since hepcidin inhibits iron exportation from cells by blocking ferroportin
activity, the root cause of the hypoferremia and iron-restricted erythropoiesis in ACD can be attributed to the excess hepcidin levels.
Hephaestin is a ceruloplasmin homolog, and colocalizes with ferroportin
at the basolateral membrane of enterocytes.
A valine deletion of ferroportin
1: a common mutation in hemochromatosis type 4.