NPC1

NPC1 is a protein that in humans is encoded by the NPC1 gene. It is involved in the intracellular trafficking of cholesterol and other lipids and plays a crucial role in the functioning of cells. Mutations in the NPC1 gene are associated with Niemann-Pick disease, type C1, a rare neurodegenerative disorder.

Function

The NPC1 gene provides instructions for producing a protein that is located in membranes within the cell, including the membranes that surround the cell's nucleus. The NPC1 protein is involved in the movement of cholesterol and lipids within cells (intracellular trafficking). It plays a crucial role in the normal functioning of cells.

Clinical significance

Mutations in the NPC1 gene cause Niemann-Pick disease, type C1. This disorder is characterized by the inability of the body to transport cholesterol and other lipids inside cells. This leads to the accumulation of these substances within various tissues of the body, including brain tissue. The accumulation of these substances damages the affected tissues and causes the signs and symptoms of Niemann-Pick disease.

See also

• Niemann-Pick disease
• Cholesterol
• Lipid

References

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External links

• GeneReviews/NCBI/NIH/UW entry on Niemann-Pick disease type C
• OMIM entries on Niemann-Pick disease type C

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