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Genetics Home Reference: your guide to understanding genetic conditions
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HAMP

Reviewed October 2006

What is the official name of the HAMP gene?

The official name of this gene is “hepcidin antimicrobial peptide.”

HAMP is the gene's official symbol. The HAMP gene is also known by other names, listed below.

What is the normal function of the HAMP gene?

The HAMP gene provides instructions for the production of a protein called hepcidin. Hepcidin was originally identified as having antimicrobial properties, which refers to the ability of this protein to fight bacterial infections. Researchers have discovered that hepcidin plays a major role in maintaining iron balance in the body. They believe that hepcidin circulates in the blood and inhibits iron absorption by the small intestine when the body's supply of iron is too high. Researchers have proposed that hepcidin production in the liver increases when iron enters liver cells from the blood. Hepcidin is then released into the bloodstream and travels throughout the body. This protein interacts primarily with other proteins in the intestines, liver, and certain white blood cells to adjust iron absorption and storage. In this way, iron supplies are monitored and iron absorption is adjusted to reflect the needs of an individual's body.

How are changes in the HAMP gene related to health conditions?

hemochromatosis - caused by mutations in the HAMP gene

At least eight mutations in the HAMP gene have been identified that result in hemochromatosis. People who have mutations in the HAMP gene are affected by a severe type of juvenile hemochromatosis, sometimes called type 2 hemochromatosis, that begins between the ages of 10 years and 30 years. People with mutations in the HAMP gene are unable to make normal hepcidin and cannot inhibit iron absorption, even when the body has sufficient supplies of iron. The organs of affected people become overloaded with iron, especially the liver and the heart, leading to the organ damage characteristic of this disorder.

Where is the HAMP gene located?

Cytogenetic Location: 19q13.1

Molecular Location on chromosome 19: base pairs 35,282,506 to 35,285,142

The HAMP gene is located on the long (q) arm of chromosome 19 at position 13.1.

The HAMP gene is located on the long (q) arm of chromosome 19 at position 13.1.

More precisely, the HAMP gene is located from base pair 35,282,506 to base pair 35,285,142 on chromosome 19.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about HAMP?

You and your healthcare professional may find the following resources about HAMP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HAMP gene or gene products?

  • HEPC
  • HEPC_HUMAN
  • Hepcidin
  • HFE2B
  • LEAP1
  • LEAP-1
  • Liver-expressed antimicrobial peptide
  • PLTR
  • Putative liver tumor regressor

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding HAMP?

antimicrobial ; expressed ; gene ; intestine ; iron ; juvenile ; metabolism ; peptide ; protein ; tumor ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12196177?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11459944?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11459944?dopt=Abstract)
  • Fleming RE, Sly WS. Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Rev Physiol. 2002;64:663-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11826284?dopt=Abstract)
  • 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. Epub 2002 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/12138110?dopt=Abstract)
  • Leong WI, Lönnerdal B. Hepcidin, the recently identified peptide that appears to regulate iron absorption. J Nutr. 2004 Jan;134(1):1-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14704284?dopt=Abstract)
  • McGregor J, McKie AT, Simpson RJ. Of mice and men: genetic determinants of iron status. Proc Nutr Soc. 2004 Feb;63(1):11-20. (http://www.ncbi.nlm.nih.gov/pubmed/15070436?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/57817)
  • Pietrangelo A. Hereditary hemochromatosis--a new look at an old disease. N Engl J Med. 2004 Jun 3;350(23):2383-97. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15175440?dopt=Abstract)
  • 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. Epub 2002 Dec 9. (http://www.ncbi.nlm.nih.gov/pubmed/12469120?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2006
Published: December 22, 2014