DISEASES

Disease-gene associations mined from literature

Literature associating PRKCSH and autosomal recessive polycystic kidney disease

PRKCSH [ENSP00000466134]

Glucosidase 2 subunit beta; Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins . Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).

Synonyms:  PRKCSH,  A0A0C4DGP4,  K7EIP3,  K7EJ70,  K7EKX1 ...

Linkouts:  STRING  Pharos  UniProt