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AT-Ⅲ是人血浆中重要的丝氨酸蛋白酶抑制剂,由9个α-螺旋结构,3个β-折叠,一个反应中心环组成。天然AT-Ⅲ与肝素结合使半掩埋的RCL排出分子表面,AT-Ⅲ分子处于高抑制活性构象。AT-Ⅲ基因位于1q23-25,长度为19kb。外显子I前后的DNA序列调控AT-Ⅲ基因的表达。基因的缺失、变异将导致AT-Ⅲ分子在血浆中的浓度低下或功能异常,引发血栓性疾病。
AT-III is an important serine protease inhibitor in human plasma and consists of 9 α-helical structures, 3 β-sheets and one reactive central ring. Binding of native AT-III to heparin allows semi-buried RCLs to excrete molecules and AT-III molecules in a highly inhibitory conformation. AT-Ⅲ gene is located in 1q23-25, the length of 19kb. The DNA sequence before and after exon I regulates AT-Ⅲ gene expression. Gene deletion, mutation will lead to AT-Ⅲ molecules in the plasma concentration is low or dysfunction, trigger thrombotic disease.