HAMP
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HAMP (hepcidin antimicrobial peptide) is a human gene that instructs cells to manufacture a small protein called hepcidin, which was originally identified as having antimicrobial properties. Researchers recently discovered that hepcidin plays a role in maintaining iron balance in humans. It is currently believed that in normal situations, hepcidin in the blood inhibits iron absorption by the small intestine in response to increased stores of iron in the body. Researchers have proposed that hepcidin production in the liver increases when iron bound to a transport protein called transferrin is taken into liver cells by transferrin receptors. Hepcidin is then released into the bloodstream and probably interacts with other proteins, including the HFE or hemochromatosis protein, to adjust the iron-absorbing capacity of these cells. In this way, iron stores are sensed and iron absorption is adjusted to reflect the needs of the person's body.
The HAMP gene is located on the long (q) arm of chromosome 19 at position 13.1, from base pair 40,465,282 to base pair 40,467,882.
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Hemochromatosis, type 2: Mutations in the HAMP gene can result in a nonfunctional hepcidin protein. Individuals who inherit mutations in the HAMP gene are affected by a severe type of juvenile hemochromatosis. Symptoms of this form of hemochromatosis are exhibited earlier than symptoms of the more common type 1 hemochromatosis. Persons with mutations in HAMP are unable to inhibit iron absorption and thus become overloaded with iron in the body, which can lead to organ damage.
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- Anderson GJ, Frazer DM, Wilkins SJ, Becker EM, Millard KN, Murphy TL, McKie AT, Vulpe CD (2002). "Relationship between intestinal iron-transporter expression, hepatic hepcidin levels and the control of iron absorption". Biochem Soc Trans 30 (4): 724-6. PMID 12196177.
- Fleming RE, Sly WS (2001). "Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease". Proc Natl Acad Sci U S A 98 (15): 8160-2. PMID 11459944. [http://www.pnas.org/cgi/content/full/98/15/8160 Full text
- Fleming RE, Sly WS (2002). "Mechanisms of iron accumulation in hereditary hemochromatosis". Annu Rev Physiol 64: 663-80. PMID 11826284.
- 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. PMID 12138110. [http://www.jbc.org/cgi/content/full/277/40/37597 Full text
- Leong WI, Lonnerdal B (2004). "Hepcidin, the recently identified peptide that appears to regulate iron absorption". J Nutr 134 (1): 1-4. PMID 14704284. Full text]
- McGregor J, McKie AT, Simpson RJ (2004). "Of mice and men: genetic determinants of iron status". Proc Nutr Soc 63 (1): 11-20. PMID 15070436.
- Pietrangelo A (2004). "Hereditary hemochromatosis--a new look at an old disease". N Engl J Med 350 (23): 2383-97. PMID 15175440.
- Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C (2003). "Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis". Nat Genet 33 (1): 21-2. PMID 12469120.
