Hemojuvelin (HJV)

Hemojuvelin is a protein encoded by the *HJV* gene, primarily expressed in the liver, heart, and skeletal muscle. It exists in both membrane-bound and soluble forms and plays a central role in systemic iron homeostasis by regulating the expression of hepcidin, a key hormone for maintaining iron balance. It acts as a co-receptor for bone morphogenetic proteins (BMPs), activating hepcidin transcription through the BMP/SMAD signaling pathway. Mutations in *HJV* are most commonly associated with juvenile-onset hereditary hemochromatosis, characterized by excessive dietary iron absorption leading to tissue damage from iron overload.

Other names

HFE2HFE2AJHRGMC

Modulation of hepcidin expression via BMP/SMAD signaling pathway