SERPINA5
The Serpina5 Gene: A Comprehensive Guide
Description
The serpinA5 gene, located on chromosome 14q32.13, encodes the serpin peptidase inhibitor, clade A (alpha-1 antichymotrypsin), member 5 (SERPINA5). This gene plays a crucial role in regulating the inflammatory response and maintaining tissue homeostasis. SERPINA5 is primarily expressed in liver cells and macrophages.
Structure and Function
SERPINA5 is a member of the serpin superfamily, characterized by their ability to inhibit serine proteases. It consists of a reactive center loop (RCL) that undergoes a conformational change upon encountering a target protease. This change blocks the protease‘s active site, preventing it from further activity.
SERPINA5 specifically targets and inhibits various serine proteases involved in inflammation, including chymotrypsin, elastase, and cathepsin G. By inhibiting these proteases, SERPINA5 helps control inflammation and protects tissues from damage and degradation.
Associated Diseases
Mutations or polymorphisms in the SERPINA5 gene have been linked to several diseases, including:
- COPD (Chronic Obstructive Pulmonary Disease): Certain SERPINA5 alleles, such as the Z allele, increase the risk of developing COPD, a condition characterized by chronic inflammation and airflow limitation.
- Emphysema: Emphysema, a progressive lung disease that causes damage to the alveoli, is also associated with the Z allele of SERPINA5.
- Sarcoidosis: SERPINA5 variants have been implicated in the development of sarcoidosis, a multisystem inflammatory disease primarily affecting the lungs.
- Rheumatoid Arthritis: Studies have suggested an association between SERPINA5 polymorphisms and increased susceptibility to rheumatoid arthritis, an autoimmune disease that causes inflammation and joint damage.
Did you Know ?
According to a large-scale study published in the journal JAMA Internal Medicine, individuals carrying the Z allele of SERPINA5 have an approximately 10-fold increased risk of developing COPD compared to those carrying the normal S allele.
