HAMP
Chr 19ARhepcidin antimicrobial peptide
Also known as: HEPC, HFE2B, LEAP1, PLTR
HAMP encodes hepcidin, a liver-produced hormone that regulates iron homeostasis by controlling iron absorption in the intestine and iron distribution across tissues. Mutations cause autosomal recessive hemochromatosis type 2B (juvenile hemochromatosis), characterized by severe iron overload leading to cardiomyopathy, cirrhosis, and endocrine failure with early onset. The gene shows low constraint to loss-of-function variants (pLI 0.008, LOEUF 1.81), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
115 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 1 | 16 | 0 | 20 |
Likely Pathogenic | 1 | 2 | 1 | 0 | 4 |
VUS | 2 | 17 | 6 | 0 | 25 |
Likely Benign | 0 | 1 | 20 | 29 | 50 |
Benign | 0 | 0 | 6 | 0 | 6 |
Conflicting | — | 6 | |||
| Total | 6 | 21 | 49 | 29 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HAMP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGEffect of Intravenous Iron on Quality of Life in Older Patients With Acute Coronary Syndrome
RECRUITINGMaternal Characteristics Associated With Child Growth and Adiposity
RECRUITINGMetabolic Response to the Initiation of Heart Failure Therapy
RECRUITINGEfficacy and Adverse Side Effects of Two Forms of Iron in Pregnancy
RECRUITINGMicronutrient Dose Response Study in Bangladesh
ACTIVE NOT RECRUITINGMolecular Hydrogen Inhalation: Effects on Health, Exercise Capacity and Inflammatory Response - in Vivo/in Vitro Studies
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools