Serine (or cysteine) proteinase inhibitor clade C (antithrombin) member 1
Serine cysteine proteinase inhibitor clade C member 1
Serine proteinase inhibitor clade C member 1
Serpin family C member 1
Serpin peptidase inhibitor clade C (antithrombin) member 1
功能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.
组织特异性Found in plasma.
疾病相关Defects in SERPINC1 are the cause of antithrombin III deficiency (AT3D) [MIM:613118]. 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.
序列相似性Belongs to the serpin family.
翻译后修饰Phosphorylation sites are present in the extracelllular medium.