The HAMP gene provides instructions for the production of a protein called hepcidin. Hepcidin, which is produced primarily in the liver, plays a major role in maintaining iron balance in the body. When blood iron levels are high, iron enters liver cells and triggers them to increase production of hepcidin. Hepcidin then circulates in the blood and stops iron absorption in the small intestine when the body's supply of iron is too high.
Hepcidin interacts primarily with other proteins in the small intestine, liver, and certain white blood cells to adjust iron absorption and storage. In this way, an appropriate balance of iron (iron homeostasis) is maintained and iron absorption is adjusted to reflect the body's needs.
Health Conditions Related to Genetic Changes
At least 14 mutations in the HAMP gene can cause type 2 hemochromatosis, a form of hereditary hemochromatosis that begins during childhood or adolescence. Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron accumulates in, and eventually damages, the body's tissues and organs.
Mutations in the HAMP gene result in the production of abnormal hepcidin with decreased function. This altered hepcidin cannot stop iron absorption, even when the body has sufficient supplies of iron. As a result, tissues and organs become overloaded with iron, especially the liver and the heart, leading to organ damage in hereditary hemochromatosis.More About This Health Condition
Other Names for This Gene
- Liver-expressed antimicrobial peptide
- Putative liver tumor regressor
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Anderson GJ, Frazer DM, Wilkins SJ, Becker EM, Millard KN, Murphy TL, McKie AT, Vulpe CD. Relationship between intestinal iron-transporter expression, hepatic hepcidin levels and the control of iron absorption. Biochem Soc Trans. 2002 Aug;30(4):724-6. doi: 10.1042/bst0300724. Citation on PubMed
- Fleming RE, Sly WS. Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease. Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8160-2. doi: 10.1073/pnas.161296298. No abstract available. Citation on PubMed or Free article on PubMed Central
- Fleming RE, Sly WS. Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol. 2002;64:663-80. doi: 10.1146/annurev.physiol.64.081501.155838. Citation on PubMed
- Gerhard GS, Paynton BV, DiStefano JK. Identification of Genes for Hereditary Hemochromatosis. Methods Mol Biol. 2018;1706:353-365. doi: 10.1007/978-1-4939-7471-9_19. Citation on PubMed
- Hunter HN, Fulton DB, Ganz T, Vogel HJ. The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis. J Biol Chem. 2002 Oct 4;277(40):37597-603. doi: 10.1074/jbc.M205305200. Epub 2002 Jul 22. Citation on PubMed
- Leong WI, Lonnerdal B. Hepcidin, the recently identified peptide that appears to regulate iron absorption. J Nutr. 2004 Jan;134(1):1-4. doi: 10.1093/jn/134.1.1. Citation on PubMed
- McGregor J, McKie AT, Simpson RJ. Of mice and men: genetic determinants of iron status. Proc Nutr Soc. 2004 Feb;63(1):11-20. doi: 10.1079/PNS2003312. Citation on PubMed
- Pietrangelo A. Hereditary hemochromatosis--a new look at an old disease. N Engl J Med. 2004 Jun 3;350(23):2383-97. doi: 10.1056/NEJMra031573. No abstract available. Citation on PubMed
- Reichert CO, da Cunha J, Levy D, Maselli LMF, Bydlowski SP, Spada C. Hepcidin: Homeostasis and Diseases Related to Iron Metabolism. Acta Haematol. 2017;137(4):220-236. doi: 10.1159/000471838. Epub 2017 May 18. Citation on PubMed
- Rishi G, Wallace DF, Subramaniam VN. Hepcidin: regulation of the master iron regulator. Biosci Rep. 2015 Mar 31;35(3):e00192. doi: 10.1042/BSR20150014. Citation on PubMed or Free article on PubMed Central
- Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053. Epub 2002 Dec 9. Citation on PubMed