HAMP Chromosome 19
Hepcidin antimicrobial peptide
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What This Gene Does
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]
Associated Conditions (5)
Hereditary hemochromatosis
Hemochromatosis type 2B
Hemochromatosis
juvenile
digenic
Key Variants
RS142126068
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis
Health Risk
RS146776859
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis
Health Risk
RS150121265
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis
Health Risk
RS201587159
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis
Health Risk
RS753934178
Conflicting classifications of pathogenicity
Hemochromatosis type 2B, Hereditary hemochromatosis, Hemochromatosis type 2B
Health Risk
RS761907472
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hereditary hemochromatosis
Health Risk
RS200488037
Likely pathogenic
Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis
Health Risk
RS764107355
Likely pathogenic
Health Risk
RS104894695
Pathogenic
Hemochromatosis type 2B, Hemochromatosis type 2B
Health Risk
RS1189025914
Pathogenic
Hemochromatosis type 2B, Hemochromatosis type 2B
Health Risk
RS1422879641
Pathogenic
Hemochromatosis, juvenile, digenic
Health Risk
RS2066319871
Pathogenic
Hemochromatosis type 2B, Hemochromatosis type 2B
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142126068 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis |
| RS146776859 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis |
| RS150121265 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis |
| RS201587159 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis |
| RS753934178 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 2B, Hereditary hemochromatosis, Hemochromatosis type 2B |
| RS761907472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS200488037 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 2B, Hereditary hemochromatosis |
| RS764107355 | Health Risk | Likely pathogenic | — |
| RS104894695 | Health Risk | Pathogenic | Hemochromatosis type 2B, Hemochromatosis type 2B |
| RS1189025914 | Health Risk | Pathogenic | Hemochromatosis type 2B, Hemochromatosis type 2B |
| RS1422879641 | Health Risk | Pathogenic | Hemochromatosis, juvenile, digenic |
| RS2066319871 | Health Risk | Pathogenic | Hemochromatosis type 2B, Hemochromatosis type 2B |
| RS944843686 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 2B, Hereditary hemochromatosis, Hemochromatosis type 2B |