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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 ?
Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: details of an analysis of published genetic epidemiological surveys.
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.
Alpha-1-antitrypsin is a glycoprotein primarily produced by hepatocytes, and to a lesser extent, immune system cells.
Koczulla's project, "Quantification of Alpha-1-Antitrypsin in Exhaled Breath Condensate of Patients with Alpha-1-Antitrypsin Deficiency, Smokers, and COPD Patients," intends to create a non-invasive tool to measure Alpha-1-Antitrypsin levels, examine correlations with markers of pulmonary inflammation, and ultimately help guide disease therapy.
This first genetic test for Alpha-1-Antitrypsin (AAT) will detect genetic abnormalities associated with adult emphysema and progressive liver cirrhosis in children.
The test detects the two most common deficiency alleles of the alpha-1-antitrypsin gene which is crucial for the production of alpha-1-antitrypsin, a protein which helps maintain lung elasticity in adults and preserves liver function in children.
Alpha-1-antitrypsin (AAT) inhibits neutrophil elastases which break down elastin, a molecule which provides elasticity in the lungs.
Alpha-1 is a form of congenital emphysema that causes degradation of a patient's lung tissue due to inadequate production of alpha-1-antitrypsin (AAT).
For many people with rare illnesses such as lysosomal storage disease, hemophilia, Guillain-Barre syndrome, and Alpha-1-antitrypsin deficiency disease, specialty pharmaceuticals represent their standard of care, keeping symptoms stable and helping to reclaim quality of life.

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