Glucosidase IIβ Polyclonal Antibody

disease:Defects in PRKCSH are a cause of polycystic liver disease (PCLD) [MIM:174050]. PCLD is an autosomal dominant disorder and is characterized by the presence of multiple liver cysts of biliary epithelial origin. PCLD is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD) [MIM:173900], which in a considerable but uncertain proportion of cases is associated with hepatic cysts.,function:Regulatory subunit of glucosidase II.,pathway:Glycan metabolism; N-glycan metabolism.,similarity:Contains 1 PRKCSH domain.,similarity:Contains 2 EF-hand domains.,subunit:Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC.,