Human Alpha-1-Antitrypsin (SERPINA1) Protein

Background

The SERPINA1 gene, commonly known as alpha-1 antitrypsin (A1AT), encodes a protein that plays a crucial role in protecting tissues from enzymes of inflammatory cells, particularly neutrophil elastase. This gene is part of the serine protease inhibitor (serpin) superfamily and is located on chromosome 14 (14q32.13). Alpha-1 antitrypsin is primarily synthesized in the liver, although it is also produced in smaller quantities by other tissues, including the lungs, intestines, and kidneys. The protein encoded by SERPINA1 is a glycoprotein that circulates in the blood and functions as a major inhibitor of proteases, especially neutrophil elastase, which, if left unchecked, can degrade elastin and other extracellular matrix components, leading to tissue damage.