Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease
Joost P. H. Drenth, Esa Tahvanainen, Rene H. M. te Morsche, Pia Tahvanainen, Helena Kääriäinen, Krister Höckerstedt, Jiddeke M. van de Kamp, Martijn H. Breuning, Jan B. M. J. Jansen – 25 March 2004 – Mutations in protein kinase C substrate 80K‐H (PRKCSH), encoding for the protein hepatocystin, cause autosomal dominant polycystic liver disease (PCLD), which is clinically characterized by the presence of multiple liver cysts. PCLD has been documented in families from Europe (Netherlands, Belgium, Finland) as well as from the United States.