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PubMed · 9559270

Niemann-Pick disease type C.

L Liscum·J J Klansek
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Abstract

Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key regulators of cholesterol homeostasis and a Drosophila morphogen receptor.

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Carrier ProteinsChromosomes, Human, Pair 18Cloning, MolecularGenetic LinkageHumansIntracellular Signaling Peptides and ProteinsMembrane GlycoproteinsNiemann-Pick C1 ProteinNiemann-Pick DiseasesPhenotypeProteinsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.Review

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L Liscum, J J Klansek. 1998. Niemann-Pick disease type C.. https://doi.org/10.1097/00041433-199804000-00009

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