Alt. symbols: PFC

Approved name: complement factor properdin
Alt. names: properdin P factor, complement

Location: Xp11.23: 47623172 - 47630305 (-)
Gene type: protein_coding, 8 transcripts.

Scores: LoFtool: 0.330000 | pLI: 0.94416867 | LOEUF: 0.430

HGNC: 8864

NCBI: 5199, RefSeq: NG_009893.1

Ensembl: ENSG00000126759.14

LRG_129 | Status: public

OMIM: 300383

Expression | ProteinAtlas

Gene Ontology (GO)

• Molecular function:
• Cell component:
• Biological process:

Normal function

The CFP gene encodes Properdin (or complement factor P), a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. It 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. The C3b,Bb convertase then rapidly cleaves more C3 to C3b, which acts either as an opsonin or reinitiates the pathway in an amplification loop that proceeds on the bacterial cell, but not on the host cell (Janeway et al., 2001). In the alternative pathway, C3 is thus activated through factor B, factor D, and properdin P, under the control of factors I and H (Fearon and Austen, 1980).

Dysfunction and disease

Mutations in CFP result in properdin deficiency (PFD) [MIM:312060] an X-linked recessive primary immunodeficiency. PFD is associated in particular with a higher susceptibility to bacterial infections, especially to meningococcal infections of Neisseria species (Janeway et al., 2001). Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). To date, missense mutations in the gene have been associated with all 3 su btypes, whereas nonsense mutations have been associated with type I or type II PFD. [Load More]