The alpha 1-antitrypsin gene and its deficiency states.
alpha 1-antitrypsin, a 52 kDa antiprotease, provides the major defense to the lower respiratory tract against the ravages of neutrophil elastase, a powerful serine protease. A variety of mutations in the coding exons of the alpha 1-antitrypsin gene result in 'alpha 1-antitrypsin deficiency', leading to emphysema at an early age. A subset of mutations cause liver disease and a rare mutation is associated with a bleeding diathesis. Preventive treatment for the emphysema associated with alpha 1-antitrypsin deficiency is available in the form of intermittent infusions with alpha 1-antitrypsin, and strategies have been developed to reverse the deficiency state with gene therapy.
Crystal
R G
RG
D000483:Alleles; D005075:Biological Evolution; D004646:Emphysema / Q000235:genetics; D005796:Genes; D015316:Genetic Therapy; D006474:Hemorrhagic Disorders / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000235:genetics; D009154:Mutation; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin