Transferrin Receptor 2 (TFR2) is a single-pass type II membrane protein primarily expressed in the liver and bone marrow, playing a crucial role in iron homeostasis. Unlike its more widely studied counterpart, Transferrin Receptor 1 (TFR1), TFR2 is specifically involved in regulating iron uptake and signaling. It interacts with transferrin, a blood plasma protein that transports iron, and helps modulate the expression of hepcidin, the master regulator of iron absorption and distribution in the body. Mutations in the TFR2 gene are associated with hereditary hemochromatosis type III, a condition characterized by excessive iron accumulation. Additionally, TFR2 is involved in erythropoiesis, as it coordinates erythroid iron availability with erythropoietin receptor sensitivity. Its therapeutic potential lies in treating iron-related disorders, such as hereditary hemochromatosis and anemia of chronic disease, by modulating iron absorption and distribution.
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