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1: Biosci Rep. 1989 Apr;9(2):129-38.Links

Alpha 1-antitrypsin: structure, function and molecular biology of the gene.

Kalsheker N.

Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff.

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.

PMID: 2669992 [PubMed - indexed for MEDLINE]