Glucosidase IIβ Rabbit Polyclonal Antibody

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014], 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.