A transmembrane ferroxidase (1158 aa) that acts in conjunction with ferroportin and that has been implicated in duodenal iron export and possibly copper homeostasis. Mutations in the murine hephaestin gene produce microcytic, hypochromic anaemia that is refractory to oral iron therapy. Hephaestin has ~50% sequence identity with ceruloplasmin and is predicted to bind six copper atoms per molecule. (Hephaestus was the Greek god of metalworking.)
Subjects: Medicine and Health — Chemistry.