Hephaestin--a ferroxidase of cellular iron export.
Hephaestin is a transmembrane copper-dependent ferroxidase necessary for effective iron transport from intestinal enterocytes into the circulation. Hephaestin is mutated in sex-linked anemia (sla) mice. The initial uptake of iron from the diet in these animals is normal, but the basolateral export of iron from enterocytes is defective, resulting in iron deficiency and microcytic hypochromic anemia. In addition to the small intestine, hephaestin is expressed to a lesser extent in colon, spleen, placenta and kidney but its role in these tissues remains unknown. So far, hephaestin has not been linked to a human disease.
Petrak
Jiri
J
Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20 Praha 2, Czech Republic. petra@uhkt.cz
Vyoral
Daniel
D
D000818:Animals; D002570:Ceruloplasmin / Q000378:metabolism; D003106:Colon / Q000378:metabolism; D006801:Humans; D007421:Intestine, Small / Q000378:metabolism; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins / Q000096:biosynthesis / Q000502:physiology*; D051379:Mice; D008817:Mice, Mutant Strains
C492164:HEPH protein, human; C117324:Heph protein, mouse; D008565:Membrane Proteins; D007501:Iron; D002570:Ceruloplasmin