The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking (inhibiting) the activity of certain enzymes. The first identified role for alpha-1 antitrypsin was to control the activity of the digestive enzyme trypsin. Alpha-1 antitrypsin also inhibits other enzymes, including a powerful enzyme called neutrophil elastase that is released from white blood cells to fight infection.
Alpha-1 antitrypsin is produced in the liver and then transported throughout the body via the blood. Alpha-1 antitrypsin protects the lungs from neutrophil elastase, which can damage lung tissue if not properly controlled.
Other Names
A1A; A1AT; A1AT_HUMAN; AAT; alpha-1 antiproteinase; alpha-1 antitrypsin; alpha-1 proteinase inhibitor; alpha1AT; PI; PI1; protease inhibitor 1 (anti-elastase); serine protease inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Related Genetics Topics
Identifiers
- NCBI Gene: 5265
- OMIM: 107400
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
