CFP Gene

The CFP gene (CFP stands for "complement factor properdin") is a protein(properdin) coding gene located at chromosome Xp11.23. Several alternatively spliced variants encoding the same protein have been identified.

The CFP gene encodes properdin, a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. Properdin binds to many microbial surfaces and apoptotic cells and stabilizes the C3 and C5 convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Properdin inhibits CFI-CFH-mediated degradation of the beta chain of complement C3 (C3b).

Mutations in the CFP gene lead to two forms of properdin deficiency, which results in high susceptibility to meningococcal infections.

Diseases associated with CFP include:

• Properdin Deficiency, X-linked (Properdin Deficiency, X-Linked)/OMIM: 312060

1. Davis CA et al (1980) Partial properdin deficiency. J Lab Clin Med 96: 633-639.
2. Densen P et al (1987) Familial properdin deficiency and fatal meningococcemia: correction of the bactericidal defect by vaccination. New Eng J Med 316: 922-926.
3. Fijen CAP et al (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups. Lancet 334: 585-588.
4. Gelfand EW et al (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. Am J Med 82: 671-675.
5. Janeway CA et al (2001) Immunobiology: the immune system in health and disease. (5th ed.) New York: Garland Publ p 50-53.