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Alpha-1-Antitrypsin

Alpha-1-Antitrypsin

Alpha-1 antitrypsin (AAT) is a liver protein that blocks the destructive effects of certain enzymes. AAT deficiency results from a genetic defect and can cause liver disease and emphysema. For example, approximately 75% of adults with a severe AAT deficiency will develop emphysema, which often begins before 40 years of age. Smoking can further increase this risk.

Swiss-Prot Accession Number: P01009


Bibliography

The effects of rare SERPINA1 variants on lung function and emphysema in SPIROMICS (2020) Ortega VE, Li X, ONeal WK, Lackey L, Ampleford E, Hawkins GA, Grayeski P, Laederach A, Barjaktarevic I, Barr RG, Cooper C, Douper D, Han MK, Kanner RE, Kleerup EC, Martinez FJ, Paine R III, Peters SP, Pirozzi C, Rennard SI, Woodruff PG, Hoffman EA, Meyers DA, Bleecker ER American Journal of Respiratory and Critical Care Medicine

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A Dual-Platform Proteomics Study of Plasma Biomarkers in Pediatric Patients Undergoing Cardiopulmonary Bypass. (2010) Umstead TM, Lu CJ, Freeman WM, Myers JL, Clark JB, Thomas NJ, Chinchilli VM, Vrana KE, Undar A, Phelps DS Pediatr Res 67: 641-9.

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