Ask about this productRelated genes to: Serpinc1 antibody
- Gene:
- SERPINC1 NIH gene
- Name:
- serpin family C member 1
- Previous symbol:
- AT3
- Synonyms:
- ATIII, MGC22579
- Chromosome:
- 1q25.1
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: Serpinc1 antibody
Related articles to: Serpinc1 antibody
- Arginine residues in antithrombin are essential for heparin binding and for the activation of this key anticoagulant serpin. Mutations affecting these residues may cause antithrombin deficiency, specifically Type II heparin-binding site (HBS) defects, and increase the risk of thrombosis. However, previous alanine-scanning mutagenesis and crystallographic studies have yielded conflicting results regarding the specific residues involved in heparin binding. Our aim was to characterize natural variants affecting arginine residues in antithrombin. Genetic, biochemical, and functional characterization of antithrombin was done in 663 unrelated patients, most with antithrombin deficiency. Recombinant expression of the variants was performed in two different N-glycosylation backgrounds. We identified nine missense variants affecting eight arginine residues located at or near the HBS, four of them novel. Two variants, the most distant from the HBS (p.R291H and p.R177C), were found to be benign. In contrast, p.R45W, p.R56C, p.R79C, p.R79H, and p.R161Q caused Type II HBS deficiency. p.R78Q, causing a mild Type II HBS defect, was identified in a patient with compound heterozygosity with other HBS mutations. N-glycosylation at N167 modulated heparin affinity and influenced the clinical severity of mutations affecting arginine residues involved in heparin interaction. Finally, p.R89S caused Type I deficiency by creating a novel N-glycosylation motif, leading to hyperglycosylation and intracellular retention. Natural variants provide valuable insights into the functional contribution of arginine residues to antithrombin-heparin interaction. Our findings highlight the biochemical, functional, and clinical heterogeneity of these mutations and underscore the importance of comprehensive characterization for accurate diagnosis and prognosis in affected individuals. - Source: PubMed
Publication date: 2026/04/22
Cifuentes-Riquelme Rosade la Morena-Barrio María EugeniaMiñano AntoniaGarrido-Rodríguez PedroVelasco FranciscoRojo-Carrillo Juan JoséLópez-Correas PalomaZaragoza-Huesca DavidPadilla JoséLozano María LuisaBravo-Pérez CarlosCorral Javier - Diagnosis of antithrombin deficiency (ATD), the most severe inherited thrombophilia, commonly relies on functional assays despite their uncertain sensitivity. Moreover, routine characterization of ATD remains uncommon due to limited supporting clinical data. - Source: PubMed
Publication date: 2026/04/20
Rojnik TamaraŠket RobertSlapnik BarbaraVrhovšek BlažMavri AlenkaDebeljak MarušaBožič Mijovski Mojca - Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. - Source: PubMed
Publication date: 2026/04/01
Younis Nancy SAlkabsh Rahma MNasser Alqahtani Shahad MAljuail HajerAlhashim Manar ABokhamsin Shahad AAlbaqshi Layla JAlqadhib Salsabil FAldandan Jumanah AAlshakhs Zahra AAltaweel Maryam HMohamed Maged E - Cancers complicated by cardiovascular diseases (CVDs) are increasingly becoming major limiting factors affecting patients' long-term quality of life and clinical outcomes. Systematic identification of therapeutic targets and their clinical development status is crucial for optimizing treatment strategies. Therefore, this study aimed to establish a target-based analytical framework to systematically map the distribution, developmental stage, maturity, and mechanistic characteristics of clinical trials investigating tumors co-occurring with CVD, thereby identifying potential therapeutic targets. - Source: PubMed
Publication date: 2026/02/07
Li JianingWang Peili - Inherited antithrombin deficiency (ATD), a rare autosomal dominant disorder due to gene mutations, is the most severe inherited thrombophilia. Limited literature exists that focuses on ATD and its mutations in the Chinese population. This study aimed to characterize gene mutations in a Chinese cohort and to explore their relationship with thrombophilia. - Source: PubMed
Publication date: 2026/03/26
Xu FeiChen XiaoliXu QiyuZou AnqingLi XiaolongWang MingshanYang LihongXie Haixiao