基因名：
SERPINA1
产品别名：
A1A； A1AT； AAT； PI； PI1； PRO2275； alpha1AT； nNIF； SERPINA1； serpin family A member 1； serpin family A member 1； alpha-1-antitrypsin； alpha-1 antitrypsin； alpha-1 protease inhibitor； alpha-1 proteinase inhibitor； alpha-1-antiproteinase； anti-elastase； epididymis secretory sperm binding protein； protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin； serine (or cysteine) proteinase inhibitor, clade A, member 1； serpin A1； serpin peptidase inhibitor clade A (alpha-1antiproteinase, antitrypsin) member 1； serpin peptidase inhibitor clade A member 1； serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1； α-1抗胰蛋白酶； α1-抗胰蛋白酶(a1AT)；
背景信息：
Serpin A1 is a prototype member of the Serpin superfamily of the serine protease inhibitors. As one of the most abundant proteinase inhibitors in the circulation, it is synthesized in hepatocytes, and to a lesser extent, in macrophages as well as intestinal epithelial cell lines and secreted as the abundant proteinase inhibitor in the circulation whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Point mutations in the native SerpinA1 variants result in Serpin A1 deficiency, and consequently lead to several clinical complications such as pulmonary emphysema, juvenile hepatitis, cirrhosis, and hepatocellular carcinoma. For example, the Z variants (Glu342 to Lys) forms intracellular inclusion bodies, is not secreted, and leads to a severe SerpinA1 deficiency. Accordingly, Serpin A1 deficiency in circulation is associated with emphysema or liver disease.
