SERPINC1

SERPINC1 Full Name

serpin peptidase inhibitor, clade C (antithrombin), member 1

SERPINC1 Introduction

SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1) is a critical gene encoding antithrombin, a key serine protease inhibitor that regulates blood coagulation. Antithrombin functions by inactivating thrombin and other proteases involved in the clotting cascade, maintaining a delicate balance between coagulation and anticoagulation in the circulatory system. Disruption of this balance, often due to genetic variations in SERPINC1, can lead to serious thrombotic disorders, making this gene a pivotal target in both clinical genetics and personalized medicine approaches for blood clot prevention and management. Understanding SERPINC1's role is essential for researchers and clinicians aiming to predict and mitigate thrombotic risks effectively.

Mutations in SERPINC1 have been increasingly identified across diverse populations, with recent studies revealing novel variants that directly impair antithrombin function. For example, research in Polish patients discovered four previously unreported mutations (Lodz I–IV), expanding the known mutation spectrum and providing new insights for diagnosing antithrombin deficiency. Similarly, studies in Chinese families have identified heterozygous and missense mutations such as c.851T>C (p.Met284Thr) and c.1148 T>A (p.L383H), which disrupt protein hydrogen bonding or enzymatic activity, ultimately reducing antithrombin function and increasing thromboembolism risk. These findings highlight how even single nucleotide changes in SERPINC1 can have profound clinical consequences, underscoring the need for precise genetic screening in at-risk individuals.

Beyond its molecular function, SERPINC1 mutations are closely linked to a range of thrombotic disorders, including hereditary antithrombin deficiency (ATD) and venous thromboembolism (VTE). Rare cases of homozygous mutations have also been associated with severe neonatal manifestations, such as early-onset cardiac thrombosis, illustrating the gene's importance from birth through adulthood. By integrating genetic sequencing, bioinformatic modeling, and clinical observation, researchers and clinicians can better predict the pathogenicity of SERPINC1 variants and implement early interventions. This makes SERPINC1 not only a vital biomarker for thrombotic risk but also a strategic target for developing personalized therapies in coagulation disorders.

Alternate Names for SERPINC1

SERPINC1; serpin peptidase inhibitor, clade C (antithrombin), member 1; AT3; AT3D; ATIII; THPH7; antithrombin-III; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1;

• 1.Nowak W, et al.; New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV. Pol Arch Intern Med. 2022, 132(1):16158.