C7 - complement C7 Gene

中文名称：补体 C7

种属: Homo sapiens

关于 C7

功能概要

该基因编码一种血清糖蛋白，该糖蛋白与补体成分 C5b、C6、C8 和 C9 一起形成膜攻击复合物，作为先天免疫系统末端补体途径的一部分。由该基因编码的蛋白质包含胆固醇依赖性溶细胞素/膜攻击复合物/穿孔素样 (CDC/MACPF) 结构域，属于一大类结构相关的分子，这些分子形成与宿主免疫和细菌发病机制有关的孔。该蛋白质通过结合 C5b-C6 亚复合物并插入磷脂双分子层来启动膜攻击复合物的形成，充当膜锚。该基因的突变与一种称为 C7 缺陷的罕见疾病有关。[RefSeq 提供，2016 年 11 月]

This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and Bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]