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.PRKCSH (Protein Kinase C Substrate 80K-H) is a Protein Coding gene. Diseases associated with PRKCSH include Polycystic Liver Disease and Polycystic Kidney And Hepatic Disease. Among its related pathways are Advanced glycosylation endproduct receptor signaling and Innate Immune System. GO annotations related to this gene include calcium ion binding and ion channel binding.

Codice: E-AB-19271_20μL | Marca: Elabscience | Confezionamento: 20μL