Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine G. Coleman, Stacie K. Loftus, Dana Zhang, Christiano Cummings, Jessie Gu, Melissa A. Rosenfeld, William J. Pavan, David B. Krizman, James Nagle, Mihail H. Polymeropoulos, Stephen L. Sturley, Yiannis A. Ioannou, Maureen E. Higgins, Marcella Comly, Adele Cooney, Anthony Brown, Christine R. Kaneski, E. Joan Blanchette-MackieNancy K. Dwyer, Edward B. Neufeld, Ta Yuan Chang, Laura Liscum, Jerome F. Strauss, Kousaku Ohno, Marsha Zeigler, Rivka Carmi, Jacob Sokol, David Markie, Raymond R. O'Neill, O. P. Van Diggelen, Milan Elleder, Marc C. Patterson, Roscoe O. Brady, Marie T. Vanier, Peter G. Pentchev, Danilo A. Tagle

Research output: Contribution to journalArticlepeer-review

1262 Scopus citations


Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)- derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl- glutaryl coenzyme A (HMG-CoA) reductase.

Original languageEnglish
Pages (from-to)228-231
Number of pages4
Issue number5323
StatePublished - 11 Jul 1997

ASJC Scopus subject areas

  • General


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