Expanding etiology of progressive familial intrahepatic cholestasis

Abstract

We present a summary of current advances made in a number of areas relevant to both the classically described FIC1 (<i>ATP8B1</i>), BSEP (<i>ABCB11</i>), and MDR3 (<i>ABCB4</i>) transporter deficiencies, as well as more recently described gene mutations -- TJP2 (<i>TJP2</i>), FXR (<i>NR1H4</i>), MYO5B (<i>MYO5B</i>), and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport.