SERPINA1 (F6I2Z) Rabbit mAb #55573

Alpha-1-antitrypsin (SERPINA1), also known as AAT and PI, is a glycoprotein belonging to the serpin (serine protease inhibitor) family. The protein is mainly produced by hepatocytes and secreted into plasma, functioning as an inhibitor of cathepsin G and elastase released by neutrophil leukocytes (1). Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene (2). The mutational variant inefficiently folds into its final conformation, thereby resulting in 85% retention as large protein polymers, which is toxic to the hepatocytes and leads to progressive liver disease, cystic fibrosis, and cirrhosis (3,4). In lung, AATD results in reduced levels of SERPINA1 and causes imbalance between elastase and anti-elastase activity. Long term AATD leads to progressive, irreversible destruction of lung tissue, and ultimately the development of chronic obstructive pulmonary disease with early-onset emphysema (5).