TFR2
UP:Q9UP52
Cloned in 1999,37 TFR2 shows 66 percent homology with TFR1, and in transfected cells, it mediates the uptake of transferrin-bound iron, possibly through a mechanism similar to that described for TfR1.
TFR2 differs from TFR1 in its affinity in vitro for transferrin (1/25 to 1/30 as strong), its high level of expression on hepatocytes, and the fact that its expression is not down-regulated by hepatic iron overload.
Function
TFR2 mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner.
TFR2 may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.
Pathology
hemochromatosis type 3 (HFE3) is caused by mutation in the transferrin receptor-2 gene (TFR2) (MIM.604720), which maps to 7q22.
See also
Hemochromatoses