The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily the liver and intestinal cells. The HFE protein is also found in some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body and plays a role in balancing iron levels.
HFE is primarily involved in iron homeostasis. Initially, it was thought that it directly regulated intestinal iron absorption. It is now believed that functional HFE is required for the normal regulation of hepcidin synthesis, which is the main regulator of iron metabolism.
The A or G -allele has been associated with iron overload.