THE MOLECULAR GENETICS OF ANTITHROMBIN DEFICIENCY
THE MOLECULAR GENETICS OF ANTITHROMBIN DEFICIENCY
复制标题
抗凝血酶缺乏症的分子遗传学
作者：
Robin J. Olid;David A.Lane;S. Thein
抗凝血酶是凝血酶和其他凝血酶的主要抑制物。抗凝血酶有两个功能结构域，一个是肝素结合部位，另一个是反应中心(使蛋白酶复合并失活)。它的缺乏会增加静脉血栓栓塞症的风险。近年来，在了解这种蛋白质的结构和功能、遗传性缺陷的遗传原因及其临床后果方面取得了显著的进展。抗凝血酶的结构现在是根据X射线结晶学的模型来考虑的，这些模型已经为其肝素相互作用部位和其反应环的功能提供了解释。已经确定了抗凝血酶基因的结构组织，并发现了许多与抗凝血酶缺乏症有关的突变：这些突变可能降低蛋白质水平(I型缺乏症)，改变蛋白质的功能(II型缺陷症，改变肝素结合或反应部位)，甚至具有多重或‘多效性’(II型缺陷症，改变功能结构域和蛋白质水平)。
Antithrombin is the major proteinase inhibitor of thrombin and other blood coagulation proteinases. Antithrombin has two functional domains, a heparin binding site and a reactive centre (that complexes and inactivates the proteinase). Its deficiency results in an increased risk of venous thromboembolism. Appreciable progress has been made in recent years in understanding the structure and function of this protein, the genetic cause of inherited deficiency and its clinical consequence. The structure of antithrombin is now considered in terms of the models derived from X-ray crystallography, which have provided explanations for the function of its heparin interaction site and of its reactive loop. The structural organization of the antithrombin gene has been defined and numerous mutations have been identified that are responsible for antithrombin deficiency: these may reduce the level of the protein (Type I deficiency), alter the function of the protein (Type II deficiency, altering heparin binding or reactive sites), or even have multiple or 'pleiotropic effects' (Type II deficiency, altering both functional domains and the level of protein).
影响因子：
158.5
作者：
MILETICH, J;SHERMAN, L;BROZE, G
通讯作者：
BROZE, G
C1 抑制剂 (Ala436-->Thr) 中的铰链区突变导致非底物样行为和分子聚合。
DOI：
--
发表时间：
1993
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Aulak,KS;Eldering,E;Hack,CE;Lubbers,YP;Harrison,RA;Mast,A;Cicardi,M;Davis3rd,AE
通讯作者：
Davis3rd,AE
C1抑制剂Ma的底物性质（丙氨酸434----谷氨酸）。
DOI：
--
发表时间：
1991
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Skriver,K;Wikoff,WR;Patston,PA;Tausk,F;Schapira,M;Kaplan,AP;Bock,SC
通讯作者：
Bock,SC