Aliases:This biomarker is also known as:
- Liver-expressed antimicrobial peptide 1,
- Putative liver tumor regressor,
- hepcidin antimicrobial peptide,
HEPC (aka HAMP) 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.
|QA State:||Under Review|
There are no datasets associated with this biomarker.