PRKCSH
Function
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 (PubMed:10929008). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (By similarity).
Involvement in disease
Polycystic liver disease 1 with or without kidney cysts
PCLD1
An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycan metabolism; N-glycan metabolism.
Cellular localization
- Endoplasmic reticulum
Alternative names
G19P1, PRKCSH, Glucosidase 2 subunit beta, 80K-H protein, Glucosidase II subunit beta, Protein kinase C substrate 60.1 kDa protein heavy chain, PKCSH