Niemann Pick C1 Recombinant Rabbit mAb (S-3160-43)

Niemann–Pick C1 (NPC1) is a large (~142 kDa) polytopic integral membrane glycoprotein that resides predominantly in the limiting membranes of late endosomes and lysosomes, where it functions as a sterol-sensing shuttle: its N-terminal “cholesterol-binding pocket” captures cholesterol (and other hydrophobic metabolites) from the luminal leaflet, a ring of 13 trans-membrane helices forms a hydrophobic conduit that is gated by cytosolic loop 6, and the C-terminal “NPC2-interacting” domain receives cholesterol from the soluble lysosomal protein NPC2, thereby enabling net export of cholesterol to the cytoplasmic leaflet for redistribution to other organelles; pathogenic mutations in NPC1 block this lipid efflux, causing the fatal neurovisceral disorder Niemann–Pick disease type C1 characterized by lysosomal lipid accumulation, neurodegeneration and premature death.