NPC1 : NPC intracellular cholesterol transporter 1
Description
The NPC1 gene provides instructions for making a protein called Niemann-Pick C1 protein. This protein plays a crucial role in the transport of cholesterol and other lipids within cells, particularly in the brain and liver. NPC1 protein is found in lysosomes, cellular compartments that break down and recycle cellular waste. Mutations in the NPC1 gene disrupt this transport process, leading to an accumulation of cholesterol and other lipids in lysosomes. This buildup can cause severe neurological and developmental problems, as well as liver dysfunction.
Associated Diseases
- Niemann-Pick disease type C (NPC): A rare, inherited neurodegenerative disorder characterized by progressive neurological deterioration, liver dysfunction, and cherry-red spots in the eyes.
- Progressive supranuclear palsy (PSP): A neurodegenerative disorder that affects the brain‘s ability to control movement.
- Alzheimer‘s disease: A neurodegenerative disorder that impairs memory and cognitive function.
Did you know?
NPC1 gene mutations are found in approximately 95% of individuals with Niemann-Pick disease type C, making it the primary genetic cause of the disease.
