基因别名: |
ARMD4,ARMS1,CFHL3,FH,FHL1,HF,HF1,HF2,HUS,MGC88246 |
基因名: |
CFH |
基因描述: |
complement factor H |
基因概览: |
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus 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 |
别名: |
H factor 1 (complement),H factor 2 (complement),OTTHUMP00000033598,age-related maculopathy susceptibility 1,beta-1-H-globulin,beta-1H,complement factor H, isoform b,factor H,factor H-like 1 |