Glucosidase 2 subunit beta è un gene codificato dal simbolo PRKCSH. Comunemente indicato anche come: 80K-H protein; Glucosidase II subunit beta; Protein kinase C substrate 60.1 kDa protein heavy chain; PKCSH; PRKCSH; G19P1. Glucosidase 2 subunit beta ha una massa di 59.43kDa, una lunghezza di amminoacidi di 528, ed è implicato in Polycystic liver disease 1 with or without kidney cysts.
Offriamo 6 anticorpi contro Glucosidase 2 subunit beta, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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).
Sommario di Entrez
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.
Coinvolgimento nella malattia
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.
Posizione cellulare
Endoplasmic reticulum.
