Glucosidase 2 subunit beta ist ein Gen, das durch das Symbol PRKCSH kodiert wird. Im Allgemeinen auch bezeichnet als: 80K-H protein; Glucosidase II subunit beta; Protein kinase C substrate 60.1 kDa protein heavy chain; PKCSH; PRKCSH; G19P1. Glucosidase 2 subunit beta hat eine Masse von 59.43kDa, eine Aminosäurelänge von 528, und ist an Polycystic liver disease 1 with or without kidney cysts beteiligt.
Wir bieten 6 antikörper gegen Glucosidase 2 subunit beta, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Polycystic liver disease 1 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.
Zellort
Endoplasmic reticulum.
