Hepcidin ist ein Gen, das durch das Symbol HAMP kodiert wird. Im Allgemeinen auch bezeichnet als: Liver-expressed antimicrobial peptide 1; LEAP-1; Putative liver tumor regressor; PLTR; HAMP; HEPC; LEAP1. Hepcidin hat eine Masse von 9.41kDa, eine Aminosäurelänge von 84, und ist an Hemochromatosis 2B beteiligt.
Wir bieten 9 Hepcidin ELISA-Kits zum qualitativen oder quantitativen Nachweis von Hepcidin von Human, Maus, Ratte, Rind und Schwein proben.
Gen- und Proteininformationen
UniProt Zusammenfassung
Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005).
Entrez Zusammenfassung
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.
Gewebespezifität
Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine.
Rolle bei Krankheiten
Hemochromatosis 2B: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.
Sequenzähnlichkeiten
Belongs to the hepcidin family.
