ヘモクロマトーシスの原因遺伝子。
The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells.
The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. The HFE protein regulates the production of another protein called hepcidin, which is considered the "master" iron regulatory hormone. Hepcidin is produced by the liver, and it determines how much iron is absorbed from the diet and released from storage sites in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated. On average, the body absorbs about 10 percent of the iron obtained from the diet.
The HFE protein also interacts with two proteins called transferrin receptors; however, the role of these interactions in iron regulation is unclear.
肝臓、小腸および一部の免疫細胞表面に発現する。他のタンパク質と相互作用して、からだの鉄の量を検出する。ヘプシジンタンパク質の合成を調節する。ペプシジンは肝臓で作られる鉄の吸収、からだの貯蔵鉄の放出を調節する。トランスフェリン受容体とも相互作用するが、鉄調節に対する役割は明らかでない。
