F12 encodes coagulation factor XII (615 aa). Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Highest expression in Liver (376.0 TPM) and Esophagus Mucosa (10.0 TPM).

Hereditary angioedema type 3 is caused by mutations in the F12 gene on chromosome 5.

The F12 protein participates in F12 T328R(20-328), F12 T328K(20-328), and F12 T328K (329-615) pathways.

F12 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 8.7.

Genetic testing for F12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary angioedema type 3 has been reported in the published literature.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.

43 publications have been identified in PubMed for hereditary angioedema type 3. Research spans Review / Meta-Analysis (23%), Case Report / Case Series (19%), and Epidemiology / Natural History (19%).

Recent Publications

• Xu Y (2026). [PMID: 41550678](https://pubmed.ncbi.nlm.nih.gov/41550678/). *World Allergy Organ J*. [Epidemiology / Natural History]

• Boch K (2026). [PMID: 41782867](https://pubmed.ncbi.nlm.nih.gov/41782867/). *Front Immunol*. [Epidemiology / Natural History]

• Prasad S (2026). [PMID: 42204478](https://pubmed.ncbi.nlm.nih.gov/42204478/). *BMC Gastroenterol*. [Case Report / Case Series]

• Gandhi RS (2026). [PMID: 41687928](https://pubmed.ncbi.nlm.nih.gov/41687928/). *J Allergy Clin Immunol*. [Review / Meta-Analysis]

• Marquès L (2026). [PMID: 41890722](https://pubmed.ncbi.nlm.nih.gov/41890722/). *Front Immunol*. [Case Report / Case Series]

• Dagdelen U (2026). [PMID: 42039318](https://pubmed.ncbi.nlm.nih.gov/42039318/). *Arch Anim Breed*. [Basic Science / Preclinical]

• Vázquez DO (2026). [PMID: 42165046](https://pubmed.ncbi.nlm.nih.gov/42165046/). *World Allergy Organ J*. [Review / Meta-Analysis]

• Fails JM (2025). [PMID: 40276615](https://pubmed.ncbi.nlm.nih.gov/40276615/). *Kans J Med*. [Case Report / Case Series]

• Germenis AE (2025). [PMID: 40599776](https://pubmed.ncbi.nlm.nih.gov/40599776/). *Front Immunol*. [Review / Meta-Analysis]

• Zuraw BL (2025). [PMID: 40053270](https://pubmed.ncbi.nlm.nih.gov/40053270/). *Clin Rev Allergy Immunol*. [Review / Meta-Analysis]