Mutations in TJP2 cause progressive cholestatic liver disease.

ABSTRACT: Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.

SUBMITTER: Sambrotta M 

PROVIDER: S-EPMC4061468 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature