Ask about this productRelated genes to: TMPRSS6 antibody
- Gene:
- TMPRSS6 NIH gene
- Name:
- transmembrane serine protease 6
- Previous symbol:
- -
- Synonyms:
- FLJ30744
- Chromosome:
- 22q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-17
- Date modifiied:
- 2019-04-23
Related products to: TMPRSS6 antibody
Related articles to: TMPRSS6 antibody
- Non-transfusion dependent β-thalassemia (NTDT) is characterized by ineffective erythropoiesis, suppression of hepcidin, and iron overload, which is a major cause of morbidity and mortality. Hepatic protease Tmprss6 regulates hepcidin by modulating BMP/Smad signaling. Suppression of Tmprss6 in the mouse model of NTDT (Th3 mice), increased hepcidin and improved disease outcomes, but similar benefits have not been reported in human trials. We hypothesized that the resistance to the effects of anti-TMPRSS6 treatment in patients with NTDT may be caused by high erythroferrone (ERFE) concentrations and more severe iron overload, both known to modulate BMP/Smad signaling in hepatocytes. We therefore examined how ERFE and iron overload modulate the effects of Tmprss6 antisense oligonucleotides (ASO) in mouse models.We treated ERFE-overexpressing Th3 mice (T-E(M)) and their littermates (wild-type, Th3, and Erfe-overexpressing E(M) mice) with Tmprss6 ASO or non-targeting ASO for 4 weeks. Tmprss6 ASO increased phospho-Smad1/5/8 and hepcidin levels, decreased splenomegaly, reduced extramedullary erythropoiesis and improved iron parameters in Th3 mice but not in T-E(M) mice, despite similar Tmprss6 decrease. To determine whether iron overload alone blunted the effects of Tmprss6 ASO, we assessed the responses of C57BL/6 mice after 10 mg of iron dextran or 5000 ppm high iron diet. Unlike iron-adequate mice, iron-overloaded mice already had high phospho-Smad and hepcidin, with no further increase after Tmprss6 ASO treatment, and no effect on erythroid or iron parameters.Higher ERFE concentrations and more severe iron overload may be responsible for diminished benefits of Tmprss6 ASO in human NTDT. - Source: PubMed
Publication date: 2026/04/09
Zhang VidaBarrett Terrance DNemeth ElizabetaGanz Tomas - Liver steatosis, fibroinflammation, and iron overload, are growing global health concerns, yet the genetic architecture and causal pathways linking liver pathology to systemic disease remain incompletely understood. - Source: PubMed
Publication date: 2026/02/28
Meena DevendraPansini MicheleFichera AlessandroHuang JingxianAhmed AltayebDehghan AbbasBanerjee RajarshiYaghootkar Hanieh - Iron deficiency, anemia, and infection are global health challenges with overlapping geographical distributions, particularly affecting pregnant women in Africa, yet the mechanisms underlying their interactions remain poorly understood. We used a multilayered approach combining clinical data from Malawian pregnant women ( = 711) in the REVAMP trial, a genetic mouse model [-knockout (KO)], and in vitro cultures to clarify iron-malaria associations. Iron deficiency was associated with 50% reduced parasitemia in pregnant women [95% CI (30 to 64%), < 0.0001], while iron-deficient mice exhibited improved survival against (median 15.5 days versus 7.0 days for WT mice) and protection from cerebral malaria (83% versus 17% survival). Iron chelation substantially changed the transcriptomic and proteomic profile of cultured parasites. Intravenous iron supplementation did not increase parasitemia when coupled with malaria prevention. These findings demonstrate that iron deficiency protects against infection and support World Health Organization recommendations for iron supplementation in malaria-endemic regions when combined with adequate malaria prevention strategies in place. - Source: PubMed
Publication date: 2026/02/27
Clucas DanielleBennett CavanHarding RebeccaPettikiriarachchi AnneBaldi AndrewRandall Louise MSteel RyanMellin RonanHobbs MelissaCaiazzo SabrinaMwangi Martin NFielding Katherine LHickey Peter FBaldwin Tracey MAmann-Zalcenstein DanielaEmery-Corbin Samantha JMzembe GloryMoya ErnestBraat SabineJex AaronDemir Ayse YVerhoef HansPhiri Kamija SBiggs Beverley-AnnTham Wai-HongBoddey Justin APasricha Sant-RaynAtaíde Ricardo - Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary disorder caused by pathogenic variants in , characterized by microcytic anemia, low circulating iron levels, and inappropriately high hepcidin levels. Although IRIDA is typically an autosomal recessive disorder, some individuals with a monoallelic pathogenic exonic variant exhibit the phenotype, suggesting additional contributing factors. The mechanisms underlying monoallelic IRIDA remain unclear, complicating diagnosis. This study aimed to investigate the potential role of non-coding variants and polygenic inheritance in monoallelic IRIDA. - Source: PubMed
Publication date: 2026/01/08
Hoving VeraDonker Albertine ESmeets Roel J Pvan den Heuvel Bert P W JSchols Saskia E MSwinkels Dorine W - Iron homeostasis represents a critical regulatory network in hematologic diseases, with dysregulation contributing to diverse pathological conditions ranging from iron-loading anemias to hematologic malignancies. The hepcidin molecule acts as a master regulator and works in conjunction with its sole iron exporter, the ferroportin channel, orchestrating systemic iron balance through intricate molecular mechanisms involving bone morphogenetic protein (BMP) signaling, erythroferrone, and transmembrane serine protease 6 (TMPRSS6). Recent advances have identified ferroptosis, an iron-dependent cell death pathway, as both a pathogenic mechanism and therapeutic target in hematologic disorders. This narrative review synthesizes current understanding of iron regulatory pathways and examines emerging therapeutic approaches targeting hepcidin-ferroportin dysfunction, erythroferrone modulation, and ferroptosis induction. Novel agents, including luspatercept, matriptase-2 inhibitors, and anti-hemojuvelin antibodies, represent promising interventions for conditions characterized by ineffective erythropoiesis and iron maldistribution. The integration of pharmacogenomic approaches and precision medicine strategies offers potential for optimized therapeutic outcomes in iron-related hematologic diseases. Critical evaluation of clinical trial evidence reveals both therapeutic promise and implementation challenges, highlighting the need for continued mechanistic research and translational development. Future directions emphasize combination therapeutic strategies, biomarker-driven patient stratification, and the development of targeted interventions addressing the complex interplay between iron metabolism, inflammation, and hematopoietic function. - Source: PubMed
Publication date: 2025/12/09
Mansour Ghaith KHajjar Ahmad WSajid Muhammad Raihan