This gene encodes a large protein that resides in thelimiting membrane of endosomes and lysosomes and mediatesintracellular cholesterol trafficking via binding of cholesterol toits N-terminal domain. It is predicted to have a cytoplasmicC-terminus, 13 transmembrane domains, and 3 large loops in thelumen of the endosome - the last loop being at the N-terminus. Thisprotein transports low-density lipoproteins to lateendosomal/lysosomal compartments where they are hydrolized andreleased as free cholesterol. Defects in this gene causeNiemann-Pick type C disease, a rare autosomal recessiveneurodegenerative disorder characterized by over accumulation ofcholesterol and glycosphingolipids in late endosomal/lysosomalcompartments.

Titration of the NPC1 antibody may be required due to differences in protocols and secondary/substrate sensitivity.

A portion of amino acids 591-620 from the human protein was used as the immunogen for this NPC1 antibody.

Aliquot the NPC1 antibody and store frozen at -20oC or colder.Avoid repeated freeze-thaw cycles.