1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
8PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
CCR6 chemokine receptor bindingcell chemotaxisGO:0005615defense response to bacteriummathematical abilityjoint diseaseradius fractureulna fracture
Based on limited published evidence, DEFB130A encodes an antimicrobial host-defense peptide with antiplasmodial activity. The protein functions as a chemoattractant through CCR6 chemokine receptor binding and promotes cell chemotaxis and defense responses to bacteria. A genetic locus near DEFB130A was associated with periodontitis susceptibility in a large Finnish GWAS study 1, suggesting a role in oral immune dysregulation and bacterial defense.
1
Genetic variation near DEFB130A was identified as a novel locus associated with periodontitis in a genome-wide association study of ~250,000 Finnish individuals
PMID: 40682483β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
mathematical abilityOpen Targets
joint diseaseOpen Targets
radius fractureOpen Targets
ulna fractureOpen Targets
Urethral strictureOpen Targets
bacterial diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.