Gene:
hemochromatosis type 2 (juvenile)
Description:
Involved in iron metabolism. May be a component of the signaling pathway which activates hepcidin (HAMP). May cooperate with hepcidin to restrict iron absorption in the gut. May act as a modulator of hepcidin expression, as deleterious mutations are associated with reduced hepcidin level. Could represent the cellular receptor for hepcidin.