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Article

Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice.

Blood - 28 Apr 2011

Finberg Karin E, Whittlesey Rebecca L, Andrews Nancy C

Abstract excerpt

The hereditary hemochromatosis protein HFE promotes the expression of hepcidin, a circulating hormone produced by the liver that inhibits dietary iron absorption and macrophage iron release. HFE mutations are associated with impaired hepatic bone morphogenetic protein (BMP)/SMAD signaling for hepcidin production. TMPRSS6, a transmembrane serine protease mutated in iron-refractory iron deficiency anemia, inhibits...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21355094
DOI: 10.1182/blood-2010-10-315507
PMCID: PMC3099575

Genes

HFE
TMPRSS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice.PMID 21355094Read ↗

Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin.Semantic proximity Read ↗

Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6.Semantic proximity Read ↗

BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expressionSemantic proximity Read ↗

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasisSemantic proximity Read ↗

Defective Bone Morphogenic Protein Signaling Underlies Hepcidin Deficiency in HFE Hereditary HemochromatosisSemantic proximity Read ↗

The serine protease TMPRSS6 is required to sense iron deficiency.Semantic proximity Read ↗

Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in miceSemantic proximity Read ↗

Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia.Semantic proximity Read ↗

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe−/− mice and ameliorates anemia and iron overload in murine β-thalassemia intermediaSemantic proximity Read ↗

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice.Semantic proximity Read ↗

The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.Semantic proximity Read ↗

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.Semantic proximity Read ↗

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