Alpha-1-antitrypsin


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SERPINA1

A gene on chromosome 14q32.1 that encodes a member of the serine protease inhibitor (serpin) family, whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin and plasminogen activator, the latter three of which it irreversibly inhibits. 

Molecular pathology
SERPINA1 mutations cause pulmonary emphysema and liver disease.

Alpha-1-antitrypsin (AAT)

A blood component that breaks down infection-fighting enzymes such as elastase.
References in periodicals archive ?
Alpha-1-antitrypsin deficiency: smoking, decline in lung function and implications for therapeutic trials.
The electrophoretic alpha-1-globin pattern of serum alpha-1-antitrypsin deficiency.
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1-antitrypsin deficiency.
Liver injury in alpha-1-antitrypsin deficiency: an aggregated protein induced mitochondrial injury.

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