α-1-antitrypsin (AAT) regulates protease activity in the lungs and liver. The presence of one or more copies of a mutant Z allele (AAT (E342K), called ATZ), results in low serum levels of ATZ along with intracellular inclusions of polymeric forms, causing lung emphysema and liver cirrhosis. Our expe...
ORGANISM(S): Homo sapiens (Human)