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
- BackgroundWhile global nutrition policies increasingly promote plant-based diets for environmental sustainability, this approach may implicitly assume biological homogeneity and overlook interindividual genetic variability in nutrient metabolism.AimThis review evaluates potential molecular bottlenecks and genetic variations that may influence individual adaptation to plant-based dietary patterns, based on recent literature in nutrigenetics and micronutrient metabolism.MethodsPeer-reviewed literature published primarily between 2015 and 2025 was searched across PubMed, Web of Science, and Scopus using nutrigenetics- and plant-based nutrition-related terms; Google Scholar was additionally consulted for supplementary citation tracking. Foundational studies were included where mechanistically relevant. Studies lacking genotypic data, in vitro models without clinical relevance, and non-English publications were excluded.SummaryCurrent evidence suggests that the conversion efficiency of plant-derived precursors into biologically active forms differs according to polymorphisms in genes including fatty acid desaturases (), beta-carotene oxygenase-1 (), and phosphatidylethanolamine N-methyltransferase (). Moreover, phytate-mediated constraints and variations affecting mineral absorption-transmembrane serine protease 6 () and solute carrier family 39 member 4 ()-and vitamin B12 transport-fucosyltransferase-2 () and transcobalamin-2 ()-may increase susceptibility to subclinical micronutrient insufficiencies in genetically predisposed individuals. Although many associations reach statistical significance, their clinical impact varies across populations and depends on the overall dietary context. These genetic influences are not deterministic and may potentially be mitigated through targeted dietary planning and personalized supplementation. Precision nutrition frameworks incorporating genetic variability may improve dietary personalization; however, future large-scale longitudinal trials are required before these findings can address consensus clinical guidelines. - Source: PubMed
Publication date: 2026/08/13
Terzioğlu ErenKalkan Indrani - - Source: PubMed
Publication date: 2026/06/23
Nasirdinov MavlonErmatov NizomDavlatov SalimIbrohimov Kamol I - Hepcidin, a 25-amino-acid peptide hormone produced primarily by hepatocytes, is the master regulator of systemic iron homeostasis. By binding the cellular iron exporter ferroportin and inducing its internalization and lysosomal degradation, hepcidin restricts iron entry into plasma from enterocytes, macrophages, and hepatocytes. Its transcription is governed by an intricate molecular network that integrates iron status, erythropoietic demand, oxygen tension, and inflammation, with the BMP-HJV-ALK2/SMAD axis acting as the canonical activating pathway and erythroferrone (ERFE) and matriptase-2 (TMPRSS6) as physiological suppressors. Dysregulation of hepcidin underpins a wide spectrum of human diseases: insufficient hepcidin drives hereditary hemochromatosis and the iron overload of congenital and acquired ineffective erythropoiesis diseases and other ineffective erythropoiesis syndromes, whereas excessive or inappropriate hepcidin contributes to anemia of inflammation, anemia of chronic kidney disease, iron-restricted erythropoiesis in cancer, the iron-restrictive anemia of myelofibrosis, and pathogen-restrictive nutritional immunity. Within the myeloproliferative neoplasm spectrum, the divergent hepcidin patterns observed in polycythemia vera (suppressed) and myelofibrosis (inappropriately elevated through dual BMP/ACVR1/SMAD and IL-6/STAT3 hyperactivation) exemplify the clinical relevance of this axis and underpin two opposite pharmacologic strategies. Over the past decade, hepcidin pathway pharmacology has matured from proof-of-concept to regulatory milestones, shifting perspectives on several diseases and markedly improving clinical approaches. - Source: PubMed
Publication date: 2026/06/25
Duminuco AndreaCosta AlessandroPilo FedericaScarso SalvatoreGiallongo CesarinaGiallongo SebastianoSantisi AnnalisaSbriglione AriannaSantocono LauraCaocci GiovanniPalumbo Giuseppe A - β-thalassemia and iron refractory iron deficiency anemia (IRIDA) are distinct hereditary causes of microcytic anemia. Their co-occurrence in the same individual is extremely rare and complicates diagnosis and management. This case series emphasizes on the importance of performing molecular analysis to define personalized therapeutic strategies. We report an Omani family with high level of interfamily marriages presenting with persistent microcytic hypochromic anemia, low ferritin levels, and partial transient response to intravenous iron therapy. Initial investigations suggested non-transfusion-dependent β-thalassemia due to persistently elevated HbF and a homozygous HBB promoter variant (NM_000518.5 (HBB):c.-121 C > T). Whole-exome sequencing subsequently identified a novel homozygous TMPRSS6 missense variant (NM_001374504.1(TMPRSS6):c.1070G > C, p.Cys357Ser), classified as likely pathogenic for IRIDA. Extensive family history revealed multiple relatives with unexplained iron deficiency requiring intravenous iron therapy and two cousins unnecessarily treated as transfusion-dependent thalassemia. After molecular confirmation, transfusions were discontinued, and the affected siblings were successfully managed with periodic IV iron therapy. This case series highlights the importance of comprehensive genomic evaluation in complex anemia presentations, particularly in consanguineous populations. The coexistence of β-thalassemia and IRIDA can obscure the clinical picture, delay appropriate therapy, and result in suboptimal therapies. Early integration of genomics is crucial for accurate diagnosis and optimal patient management. - Source: PubMed
Publication date: 2026/07/21
AlRiyami MahaAlSayegh AALRawahi MBalasuburamanian JRohlfs MPeterson LKlein CWali Y - - Source: PubMed