Background: VPS33B belongs to the STXBP/unc-18/SEC1 family. It may play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. VPS33B is ubiquitous; highly expressed in testis and low expression in the lung. Defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) [MIM:208085]. ARC is an autosomal recessive multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
Description: Rabbit polyclonal to VPS33B
Immunogen: KLH conjugated synthetic peptide derived from VPS33B
Specificity: ·Reacts with Human, Mouse, Cow and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 71 kDa;
·Immunohistochemistry (Frozen/paraffin tissue section): 1/100-200;
·Immunocytochemistry: 1/100;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.