Hemojuvelin BMP co-receptor (HJV)

Hemojuvelin BMP co-receptor (HJV) is a GPI-anchored membrane and soluble protein that acts as a coreceptor for bone morphogenetic proteins (BMPs), notably facilitating BMP signaling to regulate the transcription of hepcidin, the master hormone controlling systemic iron metabolism[1][3][6]. HJV is encoded by the HFE2 gene and belongs to the repulsive guidance molecule (RGM) family, with expression predominantly in skeletal muscle, heart, and liver[1][2]. Pathogenic mutations in HJV are responsible for juvenile hemochromatosis, a condition characterized by severe and early-onset iron overload[1][2]. HJV influences systemic iron levels by modulating hepcidin, and its disruption impairs proper iron regulation. While primarily studied in the context of iron homeostasis, altered HJV expression has also been associated with cancer progression[1]. No direct HJV-targeting drugs have been clinically approved, but it remains of theoretical interest for disorders involving iron metabolism.

Other names

HJVHFE2RGMCJHHFE2Arepulsive guidance molecule cRGM domain family member Chemochromatosis type 2 proteinhaemojuvelin

Modulation of BMP signaling to induce hepcidin transcription[3][5]. Acts as a BMP coreceptor, facilitating SMAD pathway activation[1][3].