title: Alpha 1-antitrypsin: structure, function and molecular biology of the gene.
abstract: Alpha 1-antitrypsin (AAT) deficiency is one of the commonest inherited disorders in white Caucasians. This association has provided major insights into the pathogenesis of chronic lung disease. The three dimensional structure of the protein and the structure of the gene have been determined. Some of the signals required for regulation of expression and tissue-specificity have been defined. Genetic manipulation of active site residues may provide a new generation of biological compounds with potential therapeutic applications.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff.
authors.forename: N
authors.initials: N
authors.lastname: Kalsheker
mesh_terms: D002874:Chromosome Mapping; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D015394:Molecular Structure; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology
chemical_list: D000515:alpha 1-Antitrypsin