Hemojuvelin

Hemojuvelin (also known as HJV, RGMc or HFE2) is a protein that in humans is encoded by the HFE2 gene. Hemojuvelin is a key regulator of systemic iron homeostasis, and mutations in the HFE2 gene can lead to juvenile hemochromatosis, a severe iron overload disorder.

Function

Hemojuvelin is a glycosylphosphatidylinositol-anchored protein that is involved in the regulation of systemic iron homeostasis. It acts as a bone morphogenetic protein (BMP) co-receptor, enhancing the efficiency of BMP binding to its receptor. This interaction leads to the activation of SMAD proteins, which regulate the expression of hepcidin, a hormone that is the main regulator of systemic iron homeostasis.

Clinical significance

Mutations in the HFE2 gene are associated with juvenile hemochromatosis, a severe iron overload disorder characterized by the early onset of endocrine and cardiac abnormalities. The disorder is inherited in an autosomal recessive manner.

See also

• Hemochromatosis
• Iron metabolism
• Bone morphogenetic protein

External links

• HFE2 gene at NCBI
• HFE2 gene at GHR

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