HAMP

Gene Information
 
Gene Symbol
HAMP
 
Aliases
HEPC, HFE2B, LEAP1, PLTR
 
Entrez Gene ID
 
Gene Name
Hepcidin antimicrobial peptide
 
Chromosomal Location
19q13.1
 
HGNC ID
 
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. 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, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006955 Biological process Immune response TAS 11113131
GO:0005576 Cellular component Extracellular region NAS 11034317
Protein Information
 
Protein Name
Hepcidin antimicrobial peptide, HEPC , HFE2B , PLTR , putative liver tumor regressor , LEAP1 , hepcidin , Putative liver tumor regressor , Liver-expressed antimicrobial peptide 1 , LEAP-1 , liver-expressed antimicrobial peptide 1
 
Function
Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in conjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages (By similarity)| Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa
 
Refseq Proteins
 
UniProt
 
InterPro
Accessions
IPR010500
 
Pfam
Pfam Accession Pfam ID
PF06446 Hepcidin
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Insulin resistance 21209031
   
References
 
Primary:

Role of decreased circulating hepcidin concentrations in the iron excess of women with the polycystic ovary syndrome.

Luque-Ramirez Manuel, Alvarez-Blasco Francisco, Alpanes Macarena, Escobar-Morreale Hector F
Department of Endocrinology, Hospital Universitario Ramon y Cajal and Universidad de Alcala, Carretera de Colmenar Viejo Km 9.1, E-28034 Madrid, Spain.
J Clin Endocrinol Metab. 2011 Mar;96(3):846-52. doi: 10.1210/jc.2010-2211. Epub
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Ferritin 
Increased iron stores,insulin resistance and androgen excess 
 
 
Related 
 
Patients with PCOS had reduced serum hepcidin concentrations that might contribute to their iron overload by favoring the intestinal absorption of iron 
 
Hemochromatosis 
HFE C282Y homozygosity 
 
Related 
 
 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
23548757
Is hepcidin a new cardiovascular risk marker in polycystic ovary syndrome? 
Clinical study 

 

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