Entrez gene ID | | 5199 |
Official gene symbol | | CFP |
Full name | | complement factor properdin |
Aliases | | ,BFD,PFC,PFD,PROPERDIN, |
Gene summary | | 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. |
Location | | Chromosome: X Locus: Xp11.3-p11.23 |
Gene position | | 47489704 - 47483612 Map Viewer |
Gene orientation | | minus |
Gene size | | 6093 bp |
Gene sequence |
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OMIM ID | | 300383 |
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