CFP gene

complement factor properdin

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

From NCBI Gene:

This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein 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. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]

From UniProt:

A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.

From NCBI Gene:

  • Properdin deficiency, X-linked

From UniProt:

Properdin deficiency (PFD): Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). [MIM:312060]

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23

Molecular Location: base pairs 47,624,213 to 47,630,305 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23
  • BFD
  • PFC
  • PFD
  • PROPERDIN