. Author manuscript; available in PMC: 2015 Aug 5.

Published in final edited form as: Nat Rev Gastroenterol Hepatol. 2014 Sep 30;11(12):750–761. doi: 10.1038/nrgastro.2014.155

Table 1.

Genes, proteins and animal models of polycystic liver diseases

Mutated genes	Protein	Localization	Function	Animal models
*ADPLD (~1:100,000)*
PRKCSH	Glucosidase 2 subunit β, protein kinase C substrate 80K-H or hepatocystin	ER	N-linked glycan-processing enzyme in the endoplasmic reticulum	Prkcsh^flox/flox:pCXCreER mice and zebrafish
SEC63	Translocation protein SEC63 homologue	ER	Translocation of proteins in the endoplasmic reticulum	Sec63^flox/flox:pCXCreER mice and zebrafish
LRP5	Low density lipoprotein receptor-related protein 5	Plasma membrane	Canonical Wnt signalling	Lrp5KO mouse
*ADPKD (~1:500–1:1,000)*
PKD1	Polycystin-1	Primary cilium, plasma membrane and cell junctions	Mechanoreceptor involved in calcium signalling	Pkd1^flox/:pCxCreER™ (Pkd1cKO) and zebrafish
PKD2	Polycystin-2	Primary cilium and endoplasmic reticulum	Nonselective calcium channel	Pkd2^flox/:pCxCreER™ (Pkd2cKO) and Pkd2^WS25/−
*ARPKD, CHF or CD (~1:20,000)*
PKHD1	Fibrocystin or polyductin	Primary cilium	Tubulogenesis and/or maintenance of bile duct architecture	PCK rat, and Pkhd1^del2/del2 mouse

Abbreviations: ADPKD, autosomal dominant polycystic kidney disease; ADPLD, autosomal dominant polycystic liver disease; ARPKD, autosomal recessive polycystic kidney disease; CD, Caroli disease; CHF, congenital hepatic fibrosis; ER, endoplasmic reticulum.