SERPINB4
Serpinb4 Gene: A Comprehensive Guide
Description
The serpinb4 gene, also known as Squamous cell carcinoma antigen recognized by T cells 4 (SART4), is a member of the serine protease inhibitor (serpin) gene family. It is located on chromosome 18q21.32 and encodes a protein called protease inhibitor 6 (PI-6).
PI-6 is a secreted glycoprotein that plays a crucial role in regulating inflammation and immunity. It inhibits the activity of serine proteases, which are enzymes involved in various biological processes, including coagulation, fibrinolysis, and inflammation.
Associated Diseases
Mutations in the serpinb4 gene have been linked to several diseases, including:
- Chronic obstructive pulmonary disease (COPD): COPD is a lung disease that causes airflow obstruction and difficulty breathing. Serpinb4 mutations can lead to an increased risk of developing COPD, especially in smokers.
- Emphysema: Emphysema is a type of COPD characterized by the destruction of lung tissue. Serpinb4 mutations are associated with an increased risk of emphysema.
- Lung cancer: Certain serpinb4 mutations have been linked to an increased risk of developing lung cancer, particularly squamous cell carcinoma.
- Psoriasis: Psoriasis is a chronic skin condition characterized by red, itchy, scaly patches. Serpinb4 mutations have been associated with an increased risk of developing psoriasis.
Did you Know ?
Approximately 1 in 10 people worldwide carry a serpinb4 mutation that increases their risk of developing COPD. This means that serpinb4 mutations are a significant public health concern.
