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
- HFE-related hemochromatosis is conventionally managed as a disorder of iron excess, with therapeutic phlebotomy as effective, inexpensive, first-line therapy. Ferritin normalization, however, may not fully capture clinical burden. Delphi consensus data identify the lack of alternatives to phlebotomy, persistent symptoms, and uncertainty regarding the clinical role of transferrin saturation (TSAT) and non-transferrin-bound iron (NTBI) as principal unmet needs, while general-population studies link HFE p.Cys282Tyr (p.C282Y) homozygosity to diabetes, osteoarthritis, fractures, and liver disease even at apparently normal iron indices. At the same time, the randomized evidence base for iron reduction rests on a single sham-controlled trial of erythrocytapheresis rather than on any randomized comparison of phlebotomy itself, and epidemiologic estimates of penetrance remain genuinely uncertain. This critical review evaluates the shortcomings of therapeutic phlebotomy, the ongoing risk that remains following ferritin normalization, and the potential supportive role of tracking TSAT levels. It further explores novel hepcidin-ferroportin axis targeted treatments, including the hepcidin mimetic rusfertide, the oral ferroportin inhibitor vamifeport, and agents targeting TMPRSS6. Crucially, it highlights that these agents are still investigational and acknowledges that not all persistent morbidity in p.C282Y homozygotes stems from iron deposition. Nevertheless, the combination of high treatment burden, circulating iron toxicity unmeasured by ferritin, and continued tissue and organ risk post-ferritin normalization indicates that disease management in HFE-related hemochromatosis must look beyond ferritin alone, supporting the need for clinical trials to evaluate disease-targeted interventions rigorously. - Source: PubMed
Publication date: 2026/09/20
Raja Naga Praneeth - Pleomorphic adenoma (PA) is the most common salivary gland benign tumor, with its molecular drivers elusive due to a lack of experimental models. This study aimed to decipher novel targets in PA by systematically integrating plasma protein quantitative trait loci (pQTL)-based Mendelian randomization (MR) with multi-omics profiling of parotid gland tissues. - Source: PubMed
Publication date: 2026/07/01
Fan YuchenMao SuningWang GuanruZhao GuileZhuang ShiyongYang FanLiu LiuLi HonglinLi ChunjieCao Yubin - Polycythemia vera is characterized by erythrocytosis and increased risk of thrombosis. Sapablursen is an antisense oligonucleotide that suppresses transmembrane serine protease 6 (TMPRSS6), increases hepcidin production, and reduces iron availability for erythropoiesis. IMPRSSION; an ongoing phase 2a, randomized, open-label study includes patients meeting 2016 WHO criteria for polycythemia vera, requiring ≥3 phlebotomies within 6 months of screening and ≥1 phlebotomy within the last 12 weeks. Cohort A (120 or 80 mg) and Cohort B (40 mg) received sapablursen subcutaneously once every 4 weeks (Q4W). The primary efficacy endpoint was the reduction in phlebotomy frequency from baseline to weeks 17-37 in patients who received ≥1 dose. Forty-nine patients received ≥1 sapablursen dose (median age 61 years; 82% male). The baseline mean±SD weekly phlebotomy rate was 0.15±0.07 in Cohort A; 0.17±0.07 in Cohort B and was reduced by -0.10 (95%CI, -0.13, -0.07; n=32;p<0.0001) in Cohort A; -0.10 (95%CI, -0.14, -0.06; n=17;p=0.0001) in Cohort B. Sapablursen reduced the median (IQR) number of phlebotomies from 5.0 (3.0-6.0,Cohort A; 3.5-6.5,Cohort B) at baseline (26-weeks) to 0 (0-1.0) in the efficacy evaluation window (20-weeks) in Cohort A and 1.5 (0-2.5) in Cohort B. Most adverse events were mild or moderate; anemia and fatigue were most common. The mean change in MPN-SAF-TSS at week 37 was -6.21 points (95%CI: -10.56, -1.85, p=0.0052) in Cohort A; -2.71 points in Cohort B (95% CI: -8.33, 2.91, p=0.34). Sapablursen reduced phlebotomy need, improved symptoms, and was safe and well-tolerated in patients with polycythemia vera. (Funded by Ionis Pharmaceuticals; ClinicalTrials.gov: NCT05143957). - Source: PubMed
Publication date: 2026/08/18
Palmer Jeanne MHow JonathanBose PrithvirajVachhani PankitMead Adam JSillar JonathanGerds Aaron TFleischman Angela GO'Neill Caitlin MBaker Ross IanHoffman RonaldJung ShiangtungRuckle Jon LYousefi KeyvanBhanot SanjayBarrett Terrance DMesa Ruben A - 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