該基因是補體激活(rca)基因簇調控因子的一個成員,編碼一個具有20個短一致重復序列(scr)結構域的蛋白質。這種蛋白質被分泌到血液中,在調節補體激活方面起著重要作用,限制了這種天然的防御機制對微生物感染的作用該基因突變與溶血性尿毒綜合征(hus)和慢性低補體腎病有關。交替轉錄剪接變體,編碼不同的亞型,已經被描述出來。[由RefSeq提供,2011年10月]
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]