What is SERPINC1 gene?
The SERPINC1 gene provides instructions for making a protein called antithrombin (previously known as antithrombin III), which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins.
What does low antithrombin III mean?
Antithrombin deficiency (or antithrombin III deficiency) is a blood clotting disorder that makes you more likely to get abnormal blood clots. People with this problem are at a high risk for deep vein thrombosis (a blood clot in any deep vein of the body) and pulmonary embolism (a clot that ends up in your lungs).
What is antithrombin III?
Definition. Antithrombin III (AT III) is a protein that helps control blood clotting. A blood test can determine the amount of AT III present in your body.
What is prothrombin factor?
Prothrombin is a protein in the blood that is required for the blood to clot. It is also called factor II. Blood clots are composed of a combination of blood platelets and a meshwork of the blood clotting protein fibrin.
Where does antithrombin come from?
Antithrombin (AT, Antithrombin III, ATIII) is a small glycoprotein produced by the liver that inactivates several enzymes of the coagulation system.
What are antithrombin drugs?
Abstract. Antithrombin drugs represent a wide group of natural agents, recombinant agents equivalent to some of the naturally occurring proteins, and synthetic agents. This group of drugs is characterized by marked structural and functional heterogeneity.
What Is a Factor V Leiden test?
Factor V Leiden (FVL) mutation and prothrombin 20210 (PT 20210) mutation tests are two tests often used together to help diagnose the cause of inappropriate blood clot (thrombus) formation, including deep vein thrombosis (DVT) and/or venous thromboembolism (VTE).
Does heparin activate antithrombin?
Heparin activates antithrombin both by inducing conformational changes in the protein that specifically enhances factor Xa binding and by providing a surface to promote thrombin or factor Xa binding alongside antithrombin in a ternary bridging complex.
Can prothrombin be inherited?
Prothrombin gene mutation (or Factor II mutation or Prothrombin G20210A) is an inherited condition that increases your predisposition to develop abnormal blood clots in the veins (deep vein thrombosis or DVT) and lungs (pulmonary embolism or PE).
How serious is prothrombin gene mutation?
Having the prothrombin mutation increases the risk of developing a DVT (a blood clot in the deep veins, typically the legs) and/or PE (blood clot that travels to the lungs). DVTs are dangerous because they can damage the veins, leading to pain and swelling, and sometimes to disability.
What is human antithrombin?
ANTITHROMBIN (AT) is a serine protease inhibitor that inhibits thrombin and factor Xa and, to a lesser extent, factors IXa, XIa, XIIa, tPA, urokinase, trypsin, plasmin, and kallikrein.1-4 Human AT, which is synthesized in the liver, is normally present in plasma at levels of 14 to 20 mg/dL.5,6 It has a molecular weight …
What does the gene serpinc1 stand for?
GeneCards Summary for SERPINC1 Gene SERPINC1 (Serpin Family C Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include Antithrombin Iii Deficiency and Thrombosis. Among its related pathways are Complement and coagulation cascades and Formation of Fibrin Clot (Clotting Cascade).
What is Serpin family C member 1?
SERPINC1 (Serpin Family C Member 1) is a Protein Coding gene. Diseases associated with SERPINC1 include Antithrombin Iii Deficiency and Thrombosis .
What is the function of the serpin gene?
This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity.
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