Hepcidin (HEPC) ELISA Kit for Human

The product encoded by this gene 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 against bacteria and fungi. 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. [provided by RefSeq, Oct 2014]

HAMP: Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in conjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages. Defects in HAMP are the cause of hemochromatosis type 2B (HFE2B); also known as juvenile hemochromatosis (JH). HFE2B is a disorder of iron metabolism with excess deposition of iron in the tissues, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of hemochromatosis type 2 at presentation are hypogonadism and cardiomyopathy. Belongs to the hepcidin family.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 19q13.12

Cellular Component: apical cortex; extracellular region; extracellular space

Molecular Function: hormone activity

Biological Process: acute-phase response; aging; cellular iron ion homeostasis; defense response to bacterium; defense response to fungus; immune response; killing of cells of other organism; negative regulation of transcription from RNA polymerase II promoter; response to ethanol; response to iron ion; response to vitamin A; response to zinc ion

Disease: Hemochromatosis, Type 2b