CFH

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

本基因属于调节补体激活（RCA）基因簇，编码含有二十个短一致性重复（SCR）结构域的蛋白质。此蛋白质被分泌至血液循环中，并在调节补体激活中扮演关键角色，将先天防御机制局限于微生物感染。该基因的突变与溶血性尿毒症综合征（HUS）及慢性低补体血症性肾病相关。已对不同的转录剪接变体进行鉴定，这些变体编码不同的同源异构体。[由RefSeq提供，2011年10月]