NPC2s

NPC2, also known as Niemann-Pick C2, is a protein encoded by the NPC2 gene. This protein plays a crucial role in cellular lipid metabolism, particularly in the transport and processing of cholesterol. It is a small, soluble protein that resides within lysosomes, organelles responsible for cellular waste breakdown. NPC2 facilitates the movement of cholesterol from lysosomal membranes to other cellular locations where it is needed for various functions, such as membrane synthesis and steroid hormone production.

Mutations in the NPC2 gene are associated with Niemann-Pick disease type C2, a rare lysosomal storage disorder. In this condition, the defective NPC2 protein impairs cholesterol metabolism, leading to the accumulation of cholesterol and other lipids within cells. This accumulation can cause severe damage to various organs, including the liver, spleen, and brain, resulting in progressive neurological decline and other serious health issues. The exact mechanisms by which NPC2 mediates cholesterol transport are still an area of active research, but it is believed to interact with other proteins involved in lysosomal trafficking and lipid homeostasis. Understanding the function of NPC2 and the consequences of its dysfunction is vital for developing potential therapeutic strategies for Niemann-Pick disease.