Disease:Defects in SERPINC1 are the cause of antithrombin-III deficiency (AT3D) [MIM:107300]. AT3D is an important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. AT3D is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.,Function:Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.,mass spectrometry: PubMed:7734359,mass spectrometry:Variant Thr-414 PubMed:7734359,online information:Antithrombin entry,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the serpin family.,tissue specificity:Found in plasma.,
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