For example, in the frequent hereditary iron overload disorder hemochromatosis (carrier frequency of 1 in 8) mutations in upstream regulators (human homeostatic iron regulator protein, TfR2, hemojuvelin) or the hepcidin receptor ferroportin impair the hepcidin/ferroportin regulatory system. The gene discussed is SLC40A1; the disease is hemochromatosis type 1.