Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany.
Mol Immunol. 2013 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3.
Factor H related proteins comprise a group of five plasma proteins: CFHR1, CFHR2, CFHR3, CFHR4 and CFHR5, and each member of this group binds to the central complement component C3b. Mutations, genetic deletions, duplications or rearrangements in the individual CFHR genes are associated with a number of diseases including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathies (C3 glomerulonephritis (C3GN), dense deposit disease (DDD) and CFHR5 nephropathy), IgA nephropathy, age related macular degeneration (AMD) and systemic lupus erythematosus (SLE). Although complement regulatory functions were attributed to most of the members of the CFHR protein family, the precise role of each CFHR protein in complement activation and the exact contribution to disease pathology is still unclear. Recent publications show that CFHR proteins form homo- as well as heterodimers. Genetic abnormalities within the CFHR gene locus can result in hybrid proteins with affected dimerization or recognition domains which cause defective functions. Here we summarize the recent data about CFHR genes and proteins in order to better understand the role of CFHR proteins in complement activation and in complement associated diseases.
因子 H 相关蛋白包含一组五种血浆蛋白：CFHR1、CFHR2、CFHR3、CFHR4 和 CFHR5，该组的每个成员都与中央补体成分 C3b 结合。个体 CFHR 基因中的突变、遗传缺失、重复或重排与多种疾病相关，包括非典型溶血性尿毒综合征（aHUS）、C3 肾小球病（C3 肾小球肾炎（C3GN）、致密沉积物病（DDD）和 CFHR5 肾病）、IgA 肾病、年龄相关性黄斑变性（AMD）和系统性红斑狼疮（SLE）。尽管补体调节功能归因于 CFHR 蛋白家族的大多数成员，但每个 CFHR 蛋白在补体激活中的精确作用以及对疾病发病机制的确切贡献仍不清楚。最近的出版物表明，CFHR 蛋白形成同源二聚体和异源二聚体。CFHR 基因座内的遗传异常可导致杂合蛋白的二聚化或识别域受到影响，从而导致功能缺陷。在这里，我们总结了 CFHR 基因和蛋白的最新数据，以便更好地了解 CFHR 蛋白在补体激活和补体相关疾病中的作用。
