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TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals

27 Aug 2011

Abstract excerpt

The iron hormone hepcidin is inhibited by matriptase-2 (MT2), a liver serine protease encoded by the TMPRSS6 gene. Cleaving the bone morphogenetic protein (BMP) coreceptor hemojuvelin (HJV), MT2 impairs the BMP/son of mothers against decapentaplegic homologs (SMAD) signaling pathway, down-regulates hepcidin, and facilitates iron absorption. TMPRSS6 inactivation causes iron-deficiency anemia refractory to iron...

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PMID: 21873547
DOI: 10.1182/blood-2011-06-364034

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