HAMP gene

hepcidin antimicrobial peptide

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.

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.

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12

Molecular Location: base pairs 35,282,528 to 35,285,143 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12
  • HEPC
  • Hepcidin
  • HFE2B
  • LEAP-1
  • LEAP1
  • Liver-expressed antimicrobial peptide
  • PLTR
  • Putative liver tumor regressor