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The Niemann-Pick C Proteins and Trafficking of Cholesterol Through the Late Endosomal / Lysosomal System

[ Vol. 2 , Issue. 5 ]


William S. Garver and Randall A. Heidenreich   Pages 485 - 505 ( 21 )


To maintain proper cellular function, the amount and distribution of cholesterol residing within cellular membranes must be regulated. The principal disorder affecting transport of cholesterol through the late endosomal / lysosomal system and intracellular cholesterol homeostasis is Niemann- Pick type C (NPC) disease. The genes responsible for NPC disease have been identified, and the encoded Niemann-Pick C1 (NPC1) and Niemann-Pick C2 (HE1 / NPC2) proteins are currently the subject of intense investigation. This review provides a detailed examination of NPC1 and HE1 / NPC2 in regulating the transport of cholesterol through the late endosomal / lysosomal system to other cellular compartments responsible for maintaining intracellular cholesterol homeostasis, and how defective function of these proteins may be responsible for the pathophysiology associated with NPC disease.


niemann-pick type c, late endosome, npc disease, npc 1


Section of Molecular Genetics, Department of Pediatrics, Arizona Health Sciences Center,The University of Arizona, 1501 N. Campbell Avenue, Tucson, AZ 85724,USA

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