NPC1
NPC1
NPC1 (pronounced as N-P-C-One), also known as Niemann-Pick disease type C1, is a protein that in humans is encoded by the NPC1 gene.
Etymology
The term NPC1 is derived from the name of the disease it is associated with, Niemann-Pick disease, which was named after Albert Niemann and Ludwig Pick, the two pediatricians who first described the condition. The "C1" denotes that it is a subtype of the disease.
Function
The protein NPC1 is involved in the intracellular trafficking of cholesterol and other lipids. It is located in the limiting membrane of lysosomes and late endosomes, and its deficiency leads to the accumulation of cholesterol and glycosphingolipids in these organelles.
Clinical significance
Mutations in the NPC1 gene cause Niemann-Pick disease type C, an autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration.
Related terms
- Niemann-Pick disease: A group of severe metabolic disorders in which harmful quantities of a fatty substance accumulate in various body organs.
- Cholesterol: A type of fat found in your blood. Your body needs cholesterol to build healthy cells, but high levels of cholesterol can increase your risk of heart disease.
- Lysosome: A membrane-bound cell organelle that contains digestive enzymes.
- Endosome: A membrane-bound compartment inside eukaryotic cells.
- Glycosphingolipids: A type of complex lipid that also contains carbohydrate groups.
External links
- Medical encyclopedia article on NPC1
- Wikipedia's article - NPC1
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