RGMC Polyclonal Antibody

disease:Defects in HFE2 are the cause of hemochromatosis type 2A (HFE2A) [MIM:602390]; also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron. Deleterious mutations of HFE2 reduced HAMP (hepcidin) levels despite iron overload, which normally induces HAMP expression.,function: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.,similarity:Belongs to the repulsive guidance molecule (RGM) family.,tissue specificity:Adult and fetal liver, heart, and skeletal muscle.,