Table 1 |.

Genes and proteins affected in polycystic liver diseases

Mutated genes	Protein	Localization	Function
ADPLD (frequency of ~1:100,000)
PRKCSH	Hepatocystin or glucosidase II subunit-β	ER	N-linked glycan-processing enzyme in the ER
SEC63	Translocation protein Sec63 homologue (SEC63)	ER	Translocation of proteins into the ER lumen
LRP5	Low-density lipoprotein receptor-related protein 5	Plasma membrane	Canonical Wnt signalling
GANAB	Glucosidase II subunit-α	ER	N-linked glycan-processing enzyme in the ER
SEC61B	Sec61 translocon β-subunit (SEC61β)	ER	Translocation of proteins into the ER lumen
ALG8	α–1,3-glucosyltransferase	ER	Protein glycosylation
ADPKD (frequency of ~1:500–1:1,000)
PKD1	Polycystin-1	Primary cilium, plasma membrane and cell junctions	Mechanoreceptor involved in calcium signalling
PKD2	Polycystin-2	Primary cilium and ER	Non-selective calcium channel
ARPKD, CHF and Caroli disease (frequency of ~1:20,000)
PKHD1	Fibrocystin	Primary cilium	Tubulogenesis and/or maintenance of bile duct architecture

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