GLU2B Antibody – Rabbit

This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PRKCSH: Regulatory subunit of glucosidase II. Defects in PRKCSH are a cause of polycystic liver disease (PCLD). 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), which in a considerable but uncertain proportion of cases is associated with hepatic cysts. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: endoplasmic reticulum; endoplasmic reticulum lumen; intracellular

Molecular Function: protein kinase C binding; phosphoprotein binding; calcium ion binding

Biological Process: cellular protein metabolic process; protein folding; innate immune response; protein amino acid N-linked glycosylation via asparagine; N-glycan processing; post-translational protein modification

Disease: Polycystic Liver Disease