Niemann-Pick C1 Antibody (EPR5209) (NBP1-95817) (0.1 mL)

NPC1 is a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. NPC1 transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this protein cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by overaccumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments (1).