Aliases for CFH Gene
External Ids for CFH Gene
Previous HGNC Symbols for CFH Gene
Previous GeneCards Identifiers for CFH Gene
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]
GeneCards Summary for CFH Gene
CFH (Complement Factor H) is a Protein Coding gene. Diseases associated with CFH include Macular Degeneration, Age-Related, 4 and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Immune response Lectin induced complement pathway and Immune System. GO annotations related to this gene include heparin binding and heparan sulfate proteoglycan binding. An important paralog of this gene is ENSG00000276911.
UniProtKB/Swiss-Prot for CFH Gene
Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.