This gene encodes a large protein that resides in thenlimiting membrane of endosomes and lysosomes and mediatesnintracellular cholesterol trafficking via binding of cholesterol tonits N-terminal domain. It is predicted to have a cytoplasmicnC-terminus, 13 transmembrane domains, and 3 large loops in thenlumen of the endosome - the last loop being at the N-terminus. Thisnprotein transports low-density lipoproteins to latenendosomal/lysosomal compartments where they are hydrolized andnreleased as free cholesterol. Defects in this gene causenNiemann-Pick type C disease, a rare autosomal recessivenneurodegenerative disorder characterized by over accumulation ofncholesterol and glycosphingolipids in late endosomal/lysosomalncompartments.
应用类型
WB,IHC,ICC
免疫原
This NPC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 591-620 amino acids from the Central region of human NPC1.
