CFB gene

complement factor B

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Age-related macular degeneration 14
  • Atypical hemolytic-uremic syndrome 4
  • Complement factor B deficiency

From UniProt:

Complement factor B deficiency (CFBD): An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. [MIM:615561]

Hemolytic uremic syndrome atypical 4 (AHUS4): An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. [MIM:612924]

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33

Molecular Location: base pairs 31,945,944 to 31,952,084 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33
  • AHUS4
  • ARMD14
  • BF
  • BFD
  • CFAB
  • CFBD
  • FB
  • FBI12
  • GBG
  • H2-Bf
  • PBF2