Article
Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic Approaches.
Current medicinal chemistry - 1 Jan 2017
Santangelo Simona, Scarlata Simone, Poeta Maria L, Bialas Adam J, Paone Gregorino, Incalzi Raffaele Antonelli
Abstract excerpt
Alpha-1 antitrypsin (A1AT) is a 52-kDa, acute phase glycoprotein encoded by the protease inhibitor (PI) locus, located on the long arm of chromosome 14 (14q31-32.3). Its structure is composed of a total of 7 exons, 4 coding (II, III, IV, and V) and 3 non-coding (IA, IB, and IC). A1AT is produced primarily by hepatocytes and acts as a serine protease inhibitor with antiprotease and immunoregulatory activities. The...
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