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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. 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Hepcidin; hepcidin antimicrobial peptide 1
基因别名: Hamp; Hamp1; Hepc; Hepc1
UniProt ID: (Mouse) Q9EQ21, (Rat) Q99MH3
Entrez Gene ID: (Mouse) 84506, (Rat) 84604