Hemojuvelin

• OMIM: 608 374
• UniProt: Q6ZVN8

Hämojuvelin ( HJN, RGMc ) is a protein found in vertebrates, which is involved both as a regulator on iron metabolism and on the axonal targeting. HJN is mainly expressed in human liver, heart and skeletal muscles. Of the protein are at least three isoforms, some of which are cytosolic, membrane-based portion and have different functions. Mutations at HFE2 gene responsible for juvenile hemochromatosis (type 2A).

Hepcidin binds the gut of ferroportin, thus preventing the release of the picked up by the mucosal cells of the iron in the bloodstream. Mice that do not have HFE2 gene also produce very little hepcidin. It is therefore considered that one of the Hämojuveline for the expression of hepcidin is necessary. Due to further studies is thought that Hämojuvelin to use the BMP signaling pathway. The confirmation was made by a work in which an inhibitor of this pathway, the Dorsomorphin was first discovered.