Aliases for PRKCSH Gene
External Ids for PRKCSH Gene
Previous HGNC Symbols for PRKCSH Gene
Previous GeneCards Identifiers for PRKCSH Gene
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]
GeneCards Summary for PRKCSH Gene
PRKCSH (Protein Kinase C Substrate 80K-H) is a Protein Coding gene. Diseases associated with PRKCSH include Polycystic Liver Disease 1 With Or Without Kidney Cysts and Polycystic Liver Disease. Among its related pathways are Calnexin/calreticulin cycle and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is GNPTG.
UniProtKB/Swiss-Prot Summary for PRKCSH Gene
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).