Synthesis of !1-antitrypsin

The !1-AT gene is expressed in liver cells (hepatocytes).
The gene product is channeled
through the Golgi apparatus and released from
the cell (secreted). The Z mutation leads to
aggregation of the enzyme in the liver cells,
with too little of it being secreted. The S mutation
leads to premature degradation. About
2–4% of the population in Central and Northern
Europe are MZ heterozygotes.