Chorney Michael J, Yoshida Yukinori, Meyer Paul N, Yoshida Mika, Gerhard Glenn S
Department of Microbiology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA.
Trends Mol Med. 2003 Mar;9(3):118-25. doi: 10.1016/s1471-4914(03)00023-6.
The HFE gene, a member of the class-I transplantation antigen gene family, is responsible for hereditary hemochromatosis, one of the most common inherited diseases in individuals of European descent. Patients exhibit predictable changes in iron homeostasis, including elevations in both transferrin saturation and serum ferritin levels. A subset of patients progress to overt clinical sequelae, resulting from iron overload. A hallmark of the disease is increased absorption of iron by the intestine. Although the HFE protein appears to modulate the function of the transferrin receptor in vitro, its precise role in vivo remains obscure. With multiple cell types involved in iron metabolism, the function of HFE is likely to be complex.
HFE基因是I类移植抗原基因家族的成员之一，它与遗传性血色素沉着症有关，遗传性血色素沉着症是欧洲血统个体中最常见的遗传性疾病之一。患者会出现铁稳态的可预测变化，包括转铁蛋白饱和度和血清铁蛋白水平升高。一部分患者会发展为明显的临床后遗症，这是由铁过载导致的。该病的一个标志是肠道对铁的吸收增加。尽管HFE蛋白在体外似乎能调节转铁蛋白受体的功能，但其在体内的确切作用仍不清楚。由于多种细胞类型参与铁代谢，HFE的功能可能很复杂。
