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Mutations in TJP2 , encoding zona occludens 2, and liver disease

17 Mar 2015

Abstract excerpt

Progressive familial intrahepatic cholestasis is a clinical description of a phenotype, which we now realize has several different genetic aetiologies. The identification of the underlying genetic defects has helped to elucidate important aspects of liver physiology. The latest addition to this family of diseases is tight junction protein 2 (TJP2) deficiency. This protein is also known as zona occludens 2 (ZO-2)....

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PMID: 26451340
DOI: 10.1080/21688370.2015.1026537

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