The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure.[3]
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↑Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O (May 2001). "A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload". J Biol Chem. 276 (11): 7811–9. doi:10.1074/jbc.M008923200. PMID11113132.
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Majore S, Binni F, Ricerca BM, et al. (2002). "Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload". Haematologica. 87 (2): 221–2. PMID11836175.
Klüver E, Schulz A, Forssmann WG, Adermann K (2002). "Chemical synthesis of beta-defensins and LEAP-1/hepcidin". J. Pept. Res. 59 (6): 241–8. doi:10.1034/j.1399-3011.2002.00980.x. PMID12010514.
Hunter HN, Fulton DB, Ganz T, Vogel HJ (2002). "The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis". J. Biol. Chem. 277 (40): 37597–603. doi:10.1074/jbc.M205305200. PMID12138110.
Weinstein DA, Roy CN, Fleming MD, et al. (2003). "Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease". Blood. 100 (10): 3776–81. doi:10.1182/blood-2002-04-1260. PMID12393428.
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Gehrke SG, Kulaksiz H, Herrmann T, et al. (2003). "Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron". Blood. 102 (1): 371–6. doi:10.1182/blood-2002-11-3610. PMID12637325.
Merryweather-Clarke AT, Cadet E, Bomford A, et al. (2004). "Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis". Hum. Mol. Genet. 12 (17): 2241–7. doi:10.1093/hmg/ddg225. PMID12915468.
Roetto A, Daraio F, Porporato P, et al. (2004). "Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)". Blood. 103 (6): 2407–9. doi:10.1182/blood-2003-10-3390. PMID14630809.
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