Title: a1-Antitrypsin
CAS Registry Number: 9041-92-3
CAS Name: a1-Trypsin inhibitor
Additional Names: a1-proteinase inhibitor; a1-protease inhibitor; alpha1-antitrypsin; AAT; A1AT; A1PI
Trademarks: Aralast (Baxter); Prolastin (Bayer); Zemaira (ZLB Behring)
Literature References: Serum glycoprotein synthesized by the liver. Major serine protease inhibitor (serpin) in mammalian plasma; primarily inhibits neutrophil elastase. Consists of a single polypeptide chain of 394 amino acid residues and 3 carbohydrate side chains linked to asparagine residues. Mol wt ~52,000 daltons. Highly pleomorphic protein with a number of genetic variants. Characterization of trypsin inhibitor in alpha1-fraction of human serum: K. Jacobsson, Scand. J. Clin. Invest. 7, Suppl. 14, 57-102 (1955). Isoln from human serum: F. C. Moll et al., J. Biol. Chem. 233, 121 (1958); H. F. Bundy, J. W. Mehl, ibid. 234, 1124 (1959). Purification: I. P. Crawford, Arch. Biochem. Biophys. 156, 215 (1973); M. H. Coan, W. J. Brockway, US 4379087 (1983 to Cutter). Structural study of active site: D. Johnson, J. Travis, J. Biol. Chem. 253, 7142 (1978). Complete amino acid sequence and review of genetic variants: R. W. Carrell et al., Nature 298, 329 (1982). Crystal structure: H. Loebermann et al., J. Mol. Biol. 177, 531 (1984). Cloning and expression of human AAT gene: M. Courtney et al., Proc. Natl. Acad. Sci. USA 81, 669 (1984). AAT deficiency has been associated with degenerative lung disease: C.-B. Laurell, S. Eriksson, Scand. J. Clin. Lab. Invest. 15, 132 (1963); with hepatic cirrhosis: H. L. Sharp, Gastroenterology 70, 611 (1976). Inhibition of leukocyte elastase: K. Ohlsson, Scand. J. Clin. Lab. Invest. 28, 251 (1971); K. Beatty et al., J. Biol. Chem. 255, 3931 (1980). Review of human phenotypes and relationship to disease: J. O. Morse, N. Engl. J. Med. 299, 1045-1048; 1099-1105 (1978). Clinical evaluation in AAT deficiency: M. D. Werwers et al., ibid. 316, 1055 (1987); N. Konietzko et al., Dtsch. Med. Wochenschr. 113, 369 (1988); of the effect of cigarette smoking on the association rate constant with neutrophil elastase: F. Ogushi et al., J. Clin. Invest. 87, 1060 (1991). Symposium on structure, function and clinical applications: Am. J. Med. 84, Suppl. 6A, 1-90 (1988). Review of role in emphysema: P. J. Stone, Clin. Chest Med. 4, 405-412 (1983); J. A. Pierce, J. Am. Med. Assoc. 259, 2890-2895 (1988).
Therap-Cat: In treatment of emphysema associated with inherited a1-antitrypsin deficiency.
Keywords: Enzyme Replacement Therapy. |