Function
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.
Biological Context
Subcellular Location: Cell membrane (Lipid-anchor, GPI-anchor)
Tissue Specificity: Adult and fetal liver, heart, and skeletal muscle
Disease Association: Hemochromatosis 2A (HFE2A) : A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Hemojuvelin (HJV) (Active) is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 36-400aa, with C-terminal 10xHis-tagged tag, molecular weight 40.6 kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
