Analysis of SERPINC1 Gene (Mutation) in Hereditary Antithrombin Deficiency by RT-qPCR (CAT#: STEM-MT-0166-LGZ)

Introduction

Also known as: AT3; AT3D; ATIII; THPH7; ATIII-R2; ATIII-T1; ATIII-T2
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpentin superfamily. This protein inhibits thrombin and other activated serine proteases of the coagulation system and regulates the blood coagulation cascade. The protein includes two functional domains: the heparin-binding domain at the N-terminus of the mature protein and the active site domain at the C-terminus. The presence of heparin enhanced the inhibitory activity. Numerous mutations in this gene have been identified, many of which are known to cause antithrombin-III deficiency, a strong risk factor for thrombosis. Reduced levels of this protein in serum have been associated with severe cases of coronavirus disease 19 (COVID-19).