Quantitative isolation of α1AT mutant Z protein polymers from human and mouse livers and the effect of heat
Jae‐Koo An, Keith Blomenkamp, Douglas Lindblad, Jeffrey H. Teckman – 23 December 2004 – Alpha‐1‐antitrypsin (α1AT) deficiency in its most common form is caused by homozygosity for the α1AT mutant Z gene. This gene encodes a mutant Z secretory protein, primarily synthesized in the liver, that assumes an abnormal conformation and accumulates within hepatocytes causing liver cell injury. Studies have shown that mutant α1ATZ protein molecules form unique protein polymers.