Results in lack of LDL catabolism and thus high plasma conc of LDL and cholesterol which leads to premature coronary artery disease. Partial hepatectomy, transfection with recomb. Hepatocytes returned to the liver and have LDL receptors on surface. AAT is the major serum proteae inhibitor. Synthesised in liver.
Target is neutrophil elastase in lung.
Deficiency leads to emhysema and if caused by major deficiency allele ,PiZ, liver disease including cirrhosis. Latter might seem preferable but may exacerbate liver disease.