NPC1

(redirected from Niemann-Pick disease, type C1)

NPC1

A gene on chromosome 18q11-q12 that encodes a large protein residing in the limiting membrane of endosomes and lysosomes, which mediates intracellular cholesterol trafficking by binding cholesterol to its N-terminal domain.
 
Molecular pathology
NPC1 mutations are linked to Niemann-Pick disease, type C1.
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References in periodicals archive ?
For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).
There are several types of Niemann-Pick disease; this study focused on mice that had been bred with a faulty NPC1 gene to model Niemann-Pick disease, type C1.