HJV : hemojuvelin BMP co-receptor
Description
The HJV gene, also known as hemojuvelin, plays a crucial role in regulating iron absorption and distribution in the body. It acts as a co-receptor for the bone morphogenetic protein (BMP) signaling pathway, which is essential for controlling the production of hepcidin, a hormone that regulates iron absorption. Mutations in the HJV gene can lead to iron overload disorders, such as hemochromatosis.
Associated Diseases
Did you know?
HJV was initially identified as a gene that, when mutated, causes juvenile hemochromatosis, a severe form of iron overload disorder.
