epitope mapping within an internal region of VPS33B of human origin
recommended for detection of VPS33B of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including equine, canine, bovine and avian
VPS33B Background Information Vacuolar sorting proteins (VPSs) are required for proper trafficking of endocytic and biosynthetic proteins to the vacuole and play an important role in the budding process of cells. VPS33B (vacuolar protein sorting 33 homolog B) is a 617 amino acid protein that localizes to the cytoplasmic side of the peripheral membrane, as well as to the late endosomal membrane, and belongs to the STXBP/SEC1 family. Expressed ubiquitously with highest expression in testis and lowest expression in lung, VPS33B is thought to play a role in vesicle-mediated protein trafficking to lysosomal compartments and may also be involved in membrane docking events at late endosomes. Defects in the gene encoding VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome (ARC), an autosomal recessive disorder that is characterized by renal tubular dysfunction, neurogenic arthrogryposis multiplex congenita and neonatal cholestasis with bile duct hypoplasia.
