HAMP Gene: Hepcidin Function, Mutations, and Iron Regulation

The HAMP gene encodes hepcidin, a small cysteine-rich antimicrobial peptide primarily produced by hepatocytes. Hepcidin is the master regulator of systemic iron homeostasis by controlling ferroportin-mediated iron export from enterocytes, macrophages, and hepatocytes. It also exhibits antimicrobial activity against bacteria and fungi. Dysregulation of hepcidin leads to iron overload disorders (e.g., hemochromatosis) or iron-restricted anemias (e.g., anemia of chronic disease).

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• hsa04630 (JAK-STAT signaling pathway)

• hsa04978 (Mineral absorption)

• hsa05022 (Pathways of neurodegeneration - multiple diseases)

Hepcidin is a 25-amino acid mature peptide derived from an 84-amino acid preproprotein. It contains eight cysteine residues forming four disulfide bonds, giving a hairpin structure essential for ferroportin binding and degradation. The peptide is primarily expressed in the liver and secreted into plasma. It acts as an acute-phase reactant, upregulated by inflammation and iron overload, and downregulated by hypoxia and erythropoietic demand.