NPC2 : NPC intracellular cholesterol transporter 2
Description
The Niemann-Pick disease type C2 (NPC2) gene provides the blueprint for constructing a protein crucial for cellular well-being. Residing within the intracellular compartments known as lysosomes, the NPC2 protein is a gatekeeper of cholesterol and other lipids. It facilitates their transfer out of lysosomes, allowing these essential molecules to circulate within the cell.
Associated Diseases
Mutations in the NPC2 gene disrupt the NPC2 protein‘s function, leading to a rare and devastating condition called Niemann-Pick disease type C (NPC). NPC is characterized by the abnormal accumulation of cholesterol and other lipids in lysosomes, resulting in widespread tissue damage. The disease can manifest in two primary forms:
- Infantile-onset NPC: Presents within the first year of life, causing severe neurological damage and organ dysfunction, ultimately leading to early mortality.
- Late-onset NPC: Occurs later in childhood or adulthood, typically exhibiting milder neurological symptoms and a more protracted course.
Did you Know ?
NPC affects approximately 1 in 120,000 newborns, making it a rare condition but with significant implications for those affected.
