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НАСЛЕДУЕМЫЕ МОНОГЕННЫЕ ЗАБОЛЕВАНИЯ

           

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (Alpha-1) is a hereditary genetic disorder which causes low quantities of the alpha-1 antitrypsin (AAT) protein. Alpha-1 antitrypsin is a protein made in the liver which plays an important role in preventing the breakdown of enzymes in various organs. Individuals with Alpha-1 have a genetic disorder that prevents their body from creating enough of this protein. Its principal function is to protect the lungs and other organs from harmful substances such as tobacco smoke or toxic substances. The  necessary information for the production of this protein in the liver is found in chromosome 14. Alpha-1 antitrypsin deficiency must be inherited from both parents (who are, by definition, carriers) in order to cause the disorder.

GENE OR REGION STUDIED


  • SERPINA1