10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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90PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionprotein bindingpositive regulation of complement activation, alternative pathwayprotein stabilizationProperdin deficiencyproperdin deficiency, X-linkedcomplement deficiencyneurodegenerative disease
AI summary not yet available. Showing NCBI Gene summary.
complement factor properdin
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Properdin deficiencyOpen Targets
properdin deficiency, X-linkedOpen Targets
complement deficiencyOpen Targets
neurodegenerative diseaseOpen Targets
genetic disorderOpen Targets
hepatocellular carcinomaOpen Targets
lung adenocarcinomaOpen Targets
gastric cancerOpen Targets
gastric adenocarcinomaOpen Targets
polycystic ovary syndromeOpen Targets
atrial fibrillationOpen Targets
osteoarthritisOpen Targets
colorectal carcinomaOpen Targets
Townes-Brocks syndromeOpen Targets
pulmonary fibrosisOpen Targets
chondrocalcinosis 2Open Targets
age-related macular degenerationOpen Targets
Properdin deficiencyUniProt
NM_001145252.3(CFP):c.963G>A (p.Trp321Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 321
NM_001145252.3(CFP):c.481C>T (p.Arg161Ter)Pathogenic
Properdin deficiency, X-linked|not provided
★☆☆☆2024→ Residue 161
NM_001145252.3(CFP):c.767-2A>TLikely pathogenic
Properdin deficiency, X-linked
★☆☆☆2024
NM_001145252.3(CFP):c.227+2T>GLikely pathogenic
not provided
★☆☆☆2022
NM_001145252.3(CFP):c.961T>G (p.Trp321Gly)Pathogenic
not provided
★☆☆☆2019→ Residue 321
NM_001145252.3(CFP):c.617C>G (p.Ser206Ter)Pathogenic
Properdin deficiency, X-linked
☆☆☆☆2000→ Residue 206
NM_001145252.3(CFP):c.893G>T (p.Gly298Val)Pathogenic
Properdin deficiency, X-linked
☆☆☆☆2000→ Residue 298
NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp)Pathogenic
Properdin deficiency, type III
☆☆☆☆1996→ Residue 414