CFP Chromosome X
Complement factor properdin
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What This Gene Does
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]
Gene Info
Gene Group
Complement system activation components
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000126759
Associated Conditions (3)
Properdin deficiency
X-linked
type III
Key Variants
RS1603083122
Conflicting classifications of pathogenicity
Health Risk
RS200036265
Conflicting classifications of pathogenicity
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
RS200131215
Conflicting classifications of pathogenicity
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
RS1317275240
Likely pathogenic
Health Risk
RS2519716790
Likely pathogenic
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
RS132630258
Pathogenic
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
RS132630260
Pathogenic
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
RS132630261
Pathogenic
Properdin deficiency, type III, Properdin deficiency
Health Risk
RS1603083173
Pathogenic
Health Risk
RS28935480
Pathogenic
Properdin deficiency, X-linked, Properdin deficiency
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603083122 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200036265 | Health Risk | Conflicting classifications of pathogenicity | Properdin deficiency, X-linked, Properdin deficiency |
| RS200131215 | Health Risk | Conflicting classifications of pathogenicity | Properdin deficiency, X-linked, Properdin deficiency |
| RS1317275240 | Health Risk | Likely pathogenic | — |
| RS2519716790 | Health Risk | Likely pathogenic | Properdin deficiency, X-linked, Properdin deficiency |
| RS132630258 | Health Risk | Pathogenic | Properdin deficiency, X-linked, Properdin deficiency |
| RS132630260 | Health Risk | Pathogenic | Properdin deficiency, X-linked, Properdin deficiency |
| RS132630261 | Health Risk | Pathogenic | Properdin deficiency, type III, Properdin deficiency |
| RS1603083173 | Health Risk | Pathogenic | — |
| RS28935480 | Health Risk | Pathogenic | Properdin deficiency, X-linked, Properdin deficiency |