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Official Full Name: complement factor H
Also known as: FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3
The gene is a member of the Regulatory Complement Activation (RCA) gene cluster and encodes a protein with 20 short consensus repeat (SCR) domains. This protein is secreted into the blood and plays an important role in the regulation of complement activation, limiting this innate defense mechanism against microbial infection. Mutations in this gene are associated with hemolytic uremic syndrome (HUS) and chronic deficiency nephropathy. Alternative transcriptional splice variants encoding different isoforms have been characterized.