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| {{About|the protein that is encoded by the HAMP gene||HAMP (disambiguation)}}
| | #REDIRECT [[Hepcidin]] |
| {{Infobox_gene}}
| | {{R from gene symbol}} |
| '''Hepcidin''' is a [[protein]] that in humans is encoded by the ''HAMP'' [[gene]].<ref name="pmid11034317">{{cite journal |vauthors=Krause A, Neitz S, Magert HJ, Schulz A, Forssmann WG, Schulz-Knappe P, Adermann K | title = LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity | journal = FEBS Lett | volume = 480 | issue = 2–3 | pages = 147–50 |date=Nov 2000 | pmid = 11034317 | pmc = | doi =10.1016/S0014-5793(00)01920-7 }}</ref><ref name="pmid11113132">{{cite journal |vauthors=Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O | title = A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload | journal = J Biol Chem | volume = 276 | issue = 11 | pages = 7811–9 |date=May 2001 | pmid = 11113132 | pmc = | doi = 10.1074/jbc.M008923200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: HAMP hepcidin antimicrobial peptide| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57817| accessdate = }}</ref>
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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 [[macrophage]]s, 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.<ref name="entrez"/>
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| ==See also==
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| * [[Hepcidin]]
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| ==References==
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| {{reflist}}
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| ==Further reading==
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| {{refbegin | 2}}
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| {{PBB_Further_reading
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| | citations =
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| *{{cite journal | author=Ganz T |title=Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation |journal=Blood |volume=102 |issue= 3 |pages= 783–8 |year= 2003 |pmid= 12663437 |doi= 10.1182/blood-2003-03-0672 }}
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| *{{cite journal |vauthors=Roy CN, Andrews NC |title=Anemia of inflammation: the hepcidin link |journal=Curr. Opin. Hematol. |volume=12 |issue= 2 |pages= 107–11 |year= 2005 |pmid= 15725899 |doi=10.1097/00062752-200503000-00001 }}
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| *{{cite journal | author=Fleming RE |title=Pathophysiology of hereditary hemochromatosis |journal=Semin. Liver Dis. |volume=25 |issue= 4 |pages= 411–9 |year= 2006 |pmid= 16315135 |doi= 10.1055/s-2005-923313 | pmc=2587012 |name-list-format=vanc| author2=Britton RS | author3=Waheed A | display-authors=3 | last4=Sly | first4=William S | last5=Bacon | first5=Bruce R }}
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| *{{cite journal |vauthors=Park CH, Valore EV, Waring AJ, Ganz T |title=Hepcidin, a urinary antimicrobial peptide synthesized in the liver |journal=J. Biol. Chem. |volume=276 |issue= 11 |pages= 7806–10 |year= 2001 |pmid= 11113131 |doi= 10.1074/jbc.M008922200 }}
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| *{{cite journal | author=Majore S |title=Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload |journal=Haematologica |volume=87 |issue= 2 |pages= 221–2 |year= 2002 |pmid= 11836175 |doi= |name-list-format=vanc| author2=Binni F | author3=Ricerca BM | display-authors=3 | last4=Brioli | first4=G | last5=Grammatico | first5=P }}
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| *{{cite journal |vauthors=Klüver E, Schulz A, Forssmann WG, Adermann K |title=Chemical synthesis of beta-defensins and LEAP-1/hepcidin |journal=J. Pept. Res. |volume=59 |issue= 6 |pages= 241–8 |year= 2002 |pmid= 12010514 |doi=10.1034/j.1399-3011.2002.00980.x }}
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| *{{cite journal |vauthors=Hunter HN, Fulton DB, Ganz T, Vogel HJ |title=The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis |journal=J. Biol. Chem. |volume=277 |issue= 40 |pages= 37597–603 |year= 2002 |pmid= 12138110 |doi= 10.1074/jbc.M205305200 }}
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| *{{cite journal | author=Weinstein DA |title=Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease |journal=Blood |volume=100 |issue= 10 |pages= 3776–81 |year= 2003 |pmid= 12393428 |doi= 10.1182/blood-2002-04-1260 |name-list-format=vanc| author2=Roy CN | author3=Fleming MD | display-authors=3 | last4=Loda | first4=MF | last5=Wolfsdorf | first5=JI | last6=Andrews | first6=NC }}
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| *{{cite journal | author=Nemeth E |title=Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein |journal=Blood |volume=101 |issue= 7 |pages= 2461–3 |year= 2003 |pmid= 12433676 |doi= 10.1182/blood-2002-10-3235 |name-list-format=vanc| author2=Valore EV | author3=Territo M | display-authors=3 | last4=Schiller | first4=G | last5=Lichtenstein | first5=A | last6=Ganz | first6=T }}
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| *{{cite journal | author=Roetto A |title=Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis |journal=Nat. Genet. |volume=33 |issue= 1 |pages= 21–2 |year= 2003 |pmid= 12469120 |doi= 10.1038/ng1053 |name-list-format=vanc| author2=Papanikolaou G | author3=Politou M | display-authors=3 | last4=Alberti | first4=Federica | last5=Girelli | first5=Domenico | last6=Christakis | first6=John | last7=Loukopoulos | first7=Dimitris | last8=Camaschella | first8=Clara }}
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| *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
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| *{{cite journal | author=Gehrke SG |title=Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron |journal=Blood |volume=102 |issue= 1 |pages= 371–6 |year= 2003 |pmid= 12637325 |doi= 10.1182/blood-2002-11-3610 |name-list-format=vanc| author2=Kulaksiz H | author3=Herrmann T | display-authors=3 | last4=Riedel | first4=HD | last5=Bents | first5=K | last6=Veltkamp | first6=C | last7=Stremmel | first7=W }}
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| *{{cite journal | author=Merryweather-Clarke AT |title=Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis |journal=Hum. Mol. Genet. |volume=12 |issue= 17 |pages= 2241–7 |year= 2004 |pmid= 12915468 |doi= 10.1093/hmg/ddg225 |name-list-format=vanc| author2=Cadet E | author3=Bomford A | display-authors=3 | last4=Capron | first4=D | last5=Viprakasit | first5=V | last6=Miller | first6=A | last7=McHugh | first7=PJ | last8=Chapman | first8=RW | last9=Pointon | first9=JJ }}
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| *{{cite journal | author=Clark HF |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |name-list-format=vanc| author2=Gurney AL | author3=Abaya E | display-authors=3 | last4=Baker | first4=K | last5=Baldwin | first5=D | last6=Brush | first6=J | last7=Chen | first7=J | last8=Chow | first8=B | last9=Chui | first9=C }}
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| *{{cite journal | author=Roetto A |title=Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R) |journal=Blood |volume=103 |issue= 6 |pages= 2407–9 |year= 2004 |pmid= 14630809 |doi= 10.1182/blood-2003-10-3390 |name-list-format=vanc| author2=Daraio F | author3=Porporato P | display-authors=3 | last4=Caruso | first4=R | last5=Cox | first5=TM | last6=Cazzola | first6=M | last7=Gasparini | first7=P | last8=Piperno | first8=A | last9=Camaschella | first9=C }}
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| *{{cite journal | author=Jacolot S |title=HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype |journal=Blood |volume=103 |issue= 7 |pages= 2835–40 |year= 2004 |pmid= 14670915 |doi= 10.1182/blood-2003-10-3366 |name-list-format=vanc| author2=Le Gac G | author3=Scotet V | display-authors=3 | last4=Quere | first4=I | last5=Mura | first5=C | last6=Ferec | first6=C }}
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| *{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}
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| {{refend}}
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| ==External links==
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| *[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=jh GeneReviews/NCBI/NIH/UW entry on Juvenile Hereditary Hemochromatosis]
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| {{PDB Gallery|geneid=57817}}
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| {{Iron metabolism}}
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| {{NLM content}}
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