Table 1 Genes involved in the pathogenesis of PLD

Pkd1

Its product, PC1, forms a complex with PC2 and regulates its function

ADPKD

[48]

Pkd2

Its product, PC2, acts as a cation channel and regulates the concentration of Ca²⁺ in endoplasmic reticulum and in intracellular space

ADPKD

[37][39],

GANAB

Its product, glucosidase IIα hydrolyzes glucose residues of immature glycoproteins and promotes protein folding

ADPKD

[34][35],

DNAJB11

It is a co-factor for BiP, which is a major chaperone in the endoplasmic reticulum. DNAJB11 deletion was shown to impair PC1 maturation and trafficking

ADPKD

[36]

ALG9

It encodes an enzyme that adds specific mannose molecules to produce N-glycan precursors in the endoplasmic reticulum. Its mutation impairs PC1 maturation

ADPKD

[33]

Pkhd1

Its product, fibrocystin, forms a complex with PC2 on the plasma membrane and controls Ca²⁺ transfer

ADPKD

[25][59],

Dzip1l

It is necessary for ciliary bud formation and encodes a ciliary transition zone protein that is responsible for ciliary membrane translocation of PC1 and PC2

ADPKD

[60][61],

PRKCSH

Its product, glucosidase IIβ, binds the C-terminal domain of PC2 and inhibits Herp-mediated ubiquitination and subsequent degradation of PC2 and PC1

ADPLD

[62][63],

Sec63

It is mainly involved in protein transport in the endoplasmic reticulum

ADPLD

[62][63],[64],

ALG8

As a glucosyltransferase family, it is involved in the endoplasmic reticulum quality control and is needed for the maturation and trafficking of PC1

ADPLD

[32]

SEC61B

It is involved in in endoplasmic reticulum quality control and is needed for the maturation and trafficking of PC1

ADPLD

[32]

LRP5

It is involved in the regulation of canonical Wnt signaling pathway, and its mutation can promotes the expression of several proliferative genes

ADPLD and ADPKD

[65, 66]