Aliases for CFB Gene
External Ids for CFB Gene
Previous HGNC Symbols for CFB Gene
Previous GeneCards Identifiers for CFB Gene
This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
GeneCards Summary for CFB Gene
CFB (Complement Factor B) is a Protein Coding gene. Diseases associated with CFB include Hemolytic Uremic Syndrome, Atypical 4 and Complement Factor B Deficiency. Among its related pathways are Complement and coagulation cascades and Complement Pathway. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and complement binding. An important paralog of this gene is ENSG00000244255.
UniProtKB/Swiss-Prot for CFB Gene
Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.