CFP complement factor properdin
Gene ID: 5199, updated on 5-Mar-2024Gene type: protein coding
Also known as: BFD; PFC; PFD; PROPERDIN
- See all available tests in GTR for this gene
- Go to complete Gene record for CFP
- Go to Variation Viewer for CFP variants
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.[provided by RefSeq, Feb 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Properdin deficiency, X-linked | See labs |
Genomic context
- Location:
- Xp11.23
- Sequence:
- Chromosome: X; NC_000023.11 (47623282..47630305, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CFP @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PFCbase: Mutation registry for properdin deficiency
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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