血幼素(HJV)是一种糖化磷脂酰肌醇锚连的膜蛋白,血幼素与neogenin相互作用,可能是上调hepcidin表达的上游分子。可溶性血幼素与膜型竞争结合hepcidin,在机体铁代谢过程中起重要作用。血幼素基因缺陷鼠表现类似青年型血色病,血幼素基因突变是青年型血色病发病的分子遗传学基础。 Thrombopoietin (HJV) is a glycosylated phosphatidylinositol-linked membrane protein that interacts with neogenin, probably upstream of up-regulated hepcidin expression. Soluble hemojuvelin competes with membrane-bound hepcidin and plays an important role in iron metabolism in the body. Thrombospondin-deficient mice exhibit similar juvenile hemochromatosis, and hemojuvelin gene mutations are the molecular genetic basis of the onset of juvenile hemochromatosis.