Aliases for CFD Gene
External Ids for CFD Gene
Previous HGNC Symbols for CFD Gene
Previous GeneCards Identifiers for CFD Gene
This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
GeneCards Summary for CFD Gene
CFD (Complement Factor D) is a Protein Coding gene. Diseases associated with CFD include Complement Factor D Deficiency and Night Blindness, Congenital Stationary, Type 1A. Among its related pathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is F12.
UniProtKB/Swiss-Prot Summary for CFD Gene
Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.