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Alpha-1 antitrypsin protects the lungs from neutrophil elastasewhich can damage lung tissue if not properly controlledAlpha-1 antitrypsin is produced in the liver and then transported to the lungs via the blood.
More than 120 mutations in the SERPINA1 gene have been identifiedSome of these mutations do not affect the production of alpha-1 antitrypsinwhile others cause a shortagedeficiencyof the proteinWithout enough functional alpha-1 antitrypsinneutrophil elastase destroys the small air sacs in the lungsalveoliand causes lung diseaseExcessive damage to the alveoli leads to emphysemaan irreversible lung disease that causes extreme shortness of breath.
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