该基因编码一种属于补体因子h蛋白家族的分泌蛋白。它与铜绿假单胞菌延伸因子tuf结合,并与蛋白水解激活的纤溶酶原结合。认为Tuf是一种毒力因子,通过获取宿主蛋白到病原表面,控制补体,促进组织侵袭该基因突变与非典型溶血性尿毒症综合征的风险增加有关[由RefSeq提供,2009年10月]
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
基因名: | CFHR1 |
别名: | CFHL,FHR1,HFL1,HFL2,CFHL1,H36-1,H36-2,CFHL1P,CFHR1P |
基因ID: | 3078 |
Chromosome: (GRCh37) | 1 Start: 196788861 End: 196801319 Strand: |
信号通路: |