SERPINA1 : serpin family A member 1
Description
The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin (AAT). AAT is a type of serine protease inhibitor (serpin), which means it helps control chemical reactions by blocking the activity of certain enzymes. The primary role of AAT is to regulate the activity of digestive enzymes like trypsin and powerful enzymes like neutrophil elastase, which are released by white blood cells to fight infection.
AAT is produced in the liver and then transported throughout the body via the blood. It plays a crucial role in protecting the lungs from neutrophil elastase, which can damage lung tissue if not properly controlled.
Associated Diseases
AAT deficiency is a genetic condition that occurs when a person inherits two non-functional copies of the SERPINA1 gene. This deficiency can lead to a number of health problems, including:
- Emphysema: A chronic lung disease that causes shortness of breath, coughing, and wheezing.
- Chronic obstructive pulmonary disease (COPD): A group of lung diseases that block airflow and cause breathing difficulties.
- Liver disease: AAT can accumulate in the liver and cause scarring and inflammation.
- Alpha-1 Antitrypsin Deficiency
Did you Know ?
AAT deficiency is the most common inherited cause of emphysema. It affects approximately 1 in 3,500 people worldwide.
