title: The enigmatic role of the hemochromatosis protein (HFE) in iron absorption.
abstract: 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.
authors.affiliation: Department of Microbiology, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA. mjc18@psu.edu
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Chorney
authors.forename: Yukinori
authors.initials: Y
authors.lastname: Yoshida
authors.forename: Paul N
authors.initials: PN
authors.lastname: Meyer
authors.forename: Mika
authors.initials: M
authors.lastname: Yoshida
authors.forename: Glenn S
authors.initials: GS
authors.lastname: Gerhard
mesh_terms: D000818:Animals; D015374:Biosensing Techniques; D018925:Chemokines / Q000378:metabolism; D020895:Enterocytes / Q000378:metabolism; D006432:Hemochromatosis / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D006801:Humans; D007408:Intestinal Absorption; D007501:Iron / Q000378:metabolism*; D008264:Macrophages / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological
chemical_list: D018925:Chemokines; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron