What Role Does NPC1 Play in Niemann-Pick Disease Type C?
Niemann-Pick disease type C is a genetic disorder characterized by the accumulation of cholesterol and lipids in the lysosomes due to mutations in the NPC1 gene. This accumulation disrupts normal cellular function, leading to neurological and liver dysfunction. Understanding the NPC1 gene's role in this disease helps toxicologists develop therapeutic strategies to mitigate the effects of toxic lipid storage.
