Gene | Role | Disease | Reference |
---|---|---|---|
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 | |
GANAB | Its product, glucosidase IIα hydrolyzes glucose residues of immature glycoproteins and promotes protein folding | ADPKD | |
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 | |
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 | |
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 | |
Sec63 | It is mainly involved in protein transport in the endoplasmic reticulum | ADPLD | |
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 |