Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hepcidin

Hepcidin wird vom HAMP-Gen kodiert. Es ist ein wichtiger Regulator im Eisenstoffwechsel und reguliert sowohl die Speicherung in den Makrophagen wie auch die Eisen-Aufnahme im Darm. Mutationen führen zur juvenilen Hämochromatose (Typ 2B). Oft liegt eine digenische Erkrankung vor, bei welcher eine heterozygote Mutation zusammen mit einer zweiten HFE1-Mutation auftritt.

Pathologie

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Hepcidin-Regulation des Eisenstoffwechsels

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hämochromatose 2b
HAMP

Referenzen:

1.

Nicolas G et al. (2003) Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.

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2.

Smith CL et al. (2013) IL-22 regulates iron availability in vivo through the induction of hepcidin.

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3.

Vecchi C et al. (2009) ER stress controls iron metabolism through induction of hepcidin.

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4.

Peslova G et al. (2009) Hepcidin, the hormone of iron metabolism, is bound specifically to alpha-2-macroglobulin in blood.

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5.

Andriopoulos B et al. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.

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6.

Kautz L et al. (2008) Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver.

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7.

Du X et al. (2008) The serine protease TMPRSS6 is required to sense iron deficiency.

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8.

Tanno T et al. (2007) High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin.

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9.

Babitt JL et al. (2007) Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance.

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10.

Weizer-Stern O et al. (2007) Hepcidin, a key regulator of iron metabolism, is transcriptionally activated by p53.

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11.

Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.

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12.

Lee P et al. (2005) Regulation of hepcidin transcription by interleukin-1 and interleukin-6.

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13.

Robson KJ et al. (2004) Recent advances in understanding haemochromatosis: a transition state.

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14.

Matthes T et al. (2004) Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.

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15.

Lou DQ et al. (2004) Functional differences between hepcidin 1 and 2 in transgenic mice.

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16.

Nicolas G et al. (2002) Severe iron deficiency anemia in transgenic mice expressing liver hepcidin.

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17.

Nicolas G et al. (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice.

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18.

Pigeon C et al. (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload.

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19.

Park CH et al. (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver.

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20.

Krause A et al. (2000) LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity.

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21.

Nemeth E et al. (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.

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22.

Nemeth E et al. (2004) IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin.

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23.

Merryweather-Clarke AT et al. (2003) Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

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24.

Muckenthaler M et al. (2003) Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis.

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25.

Roetto A et al. (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

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26.

Orphanet article

Orphanet ID 122364 external link
27.

NCBI article

NCBI 57817 external link
28.

OMIM.ORG article

Omim 606464 external link
29.

Wikipedia Artikel

Wikipedia DE (Hepcidin) external link
Update: 14. August 2020
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