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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