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 Complement Factor H Deficiency and Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Innate Immune System and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include heparin binding and heparan sulfate proteoglycan binding. An important paralog of this gene is CFHR5.
UniProtKB/Swiss-Prot Summary for CFH Gene
Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces (PubMed:21285368, PubMed:25402769). Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop (PubMed:19503104). As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b (PubMed:18252712, PubMed:28671664). In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed (PubMed:9558116, PubMed:20008295).