HEPH

The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq]

hephaestin

May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.

Cellular iron ion homeostasis Source: InterPro
Copper ion transport Source: UniProtKB-KW
Iron ion homeostasis Source: GO_Central
Iron ion transport Source: UniProtKB

Membrane

Extracellular: 24-1110
Helical: 1111-1131
Cytoplasmic: 1132-1158