Gene: HAMP

Alternate names for this Gene: HEPC|HFE2B|LEAP1|PLTR

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: hepcidin antimicrobial peptide

Type of Gene: protein-coding

rs10414846 in HAMP gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104894696 in HAMP gene and HEMOCHROMATOSIS, TYPE 2B PMID 12915468 2003 Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

PMID 14630809 2004 Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).

PMID 14670915 2004 HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.

PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PMID 15099344 2004 A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.

rs10414846 in HAMP gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs10414846 in HAMP gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.