Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC

Protein C (PC) is a vitamin K-dependent serine protease precursor that is mainly synthesized in the liver. PC circulates in the blood as a glycoprotein (62  kDa) consisting of a heavy chain (41 kDa) and a light chain (21 kDa) connected by a disulfide bond. PC is rapidly activated by the thrombin-thrombomodulin complex, becoming activated PC (APC). With protein S (PS) as a cofactor, PC inactivates activated factor V and activated factor VIII [1]. Inherited PC deficiency is, along with antithrombin (AT) deficiency and PS deficiency, a key risk factor for venous thromboembolism (VTE) [2].

Source: Thrombosis Research - March 9, 2020 Category: Hematology Authors: Tomoki Togashi, Makiko Meguro-Horike, Satomi Nagaya, Sayaka Sugihara, Tatsuo Ichinohe, Yuhei Araiso, Koichi Yamaguchi, Kotaro Mori, Yuta Imai, Kana Kuzasa, Shin-ichi Horike, Hidesaku Asakura, Atsushi Watanabe, Eriko Morishita Tags: Letter to the Editors-in-Chief Source Type: research