Scientific background: |
TFR2(Transferrin receptor protein 2), is a protein that in humans is encoded by the TFR2 gene. This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. By radiation hybrid analysis, Kawabata et al. (1999) mapped the TFR2 gene to chromosome 7q22.The majority of hepatic iron uptake under normal circumstances is transferrin-mediated. However, expression of TFRC in hepatocytes, as in other nonreticuloendothelial cell types, is downregulated in response to increased intracellular iron. As a consequence, TFRC expression in liver is undetectable in hereditary hemochromatosis patients with hepatic iron loading. Nonetheless, hepatic iron loading in hemochromatosis patients is progressive. Fleming et al. (2000) provided support for a mechanism that involves the uptake of transferrin-bound iron by TFR2. |
References: |
1. Fleming, R. E., Migas, M. C., Holden, C. C., Waheed, A., Britton, R. S., Tomatsu, S., Bacon, B. R., Sly, W. S.Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis.Proc. Nat. Acad. Sci. 97: 2214-2219, 2000.
2. Kawabata, H., Yang, R., Hirama, T., Vuong, P. T., Kawano, S., Gombart, A. F., Koeffler, H. P.Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family.J. Biol. Chem. 274: 20826-20832, 1999.
3. Mattman, A., Huntsman, D., Lockitch, G., Langlois, S., Buskard, N., Ralston, D., Butterfield, Y., Rodrigues, P., Jones, S., Porto, G., Marra, M., De Sousa, M., Vatcher, G.Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.Blood 100: 1075-1077, 2002.
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