The endosomal protein-sorting receptor sortilin has a role in trafficking α-1 antitrypsin.

ABSTRACT: Up to 1 in 3000 individuals in the United States have α-1 antitrypsin deficiency, and the most common cause of this disease is homozygosity for the antitrypsin-Z variant (ATZ). ATZ is inefficiently secreted, resulting in protein deficiency in the lungs and toxic polymer accumulation in the liver. However, only a subset of patients suffer from liver disease, suggesting that genetic factors predispose individuals to liver disease. To identify candidate factors, we developed a yeast ATZ expression system that recapitulates key features of the disease-causing protein. We then adapted this system to screen the yeast deletion mutant collection to identify conserved genes that affect ATZ secretion and thus may modify the risk for developing liver disease. The results of the screen and associated

SUBMITTER: Gelling CL 

PROVIDER: S-EPMC3522165 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature