该基因编码肽酶s1蛋白家族的一个成员。编码蛋白是补体系统c1复合体中的一个蛋白水解亚单位。补体系统在先天性免疫反应中起中介作用,最终引发吞噬、炎症和细菌细胞壁破裂该基因突变与埃勒斯-丹洛综合征有关。[由RefSeq提供,2018年12月]
This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

基因名:C1R
别名:EDSPD1
基因ID:715
Chromosome:
(GRCh37)
12 Start: 7241205 End: 7245043 Strand: 
信号通路:  
C1R 基因突变与药物

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