2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
3PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Swiss-Prot Reviewed
innate immune responseextracellular regionosteoarthritisneurodegenerative diseaserisk-taking behaviourplacenta praevia
Based on limited published evidence, DEFB134 encodes a defensin with antibacterial activity. The gene is located in the 8p23.1 region, where it was identified in a larger deletion associated with congenital diaphragmatic hernia and cardiac defects 1. Additionally, DEFB134 shows notable copy number variations (CNVs) with high gene copy numbers in patients experiencing ventricular fibrillation during ST-elevation acute myocardial infarction, suggesting potential involvement in cardiac pathology 2. However, direct functional studies on DEFB134 are limited.
1
DEFB134 deletion identified in 8p23.1 region associated with congenital diaphragmatic hernia and cardiac defects
PMID: 236963162
DEFB134 shows notable copy number variations in patients with ventricular fibrillation during acute myocardial infarction
PMID: 38473795β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
osteoarthritisOpen Targets
neurodegenerative diseaseOpen Targets
risk-taking behaviourOpen Targets
placenta praeviaOpen Targets
mathematical abilityOpen Targets
intellectual developmental disorder, X-linked 110Open Targets
Chronic Obstructive AsthmaOpen Targets
carcinoma of liver and intrahepatic biliary tractOpen Targets
diabetes mellitusOpen Targets
cardiovascular diseaseOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.