NPC intracellular cholesterol transporter 2 (NPC2)

NPC intracellular cholesterol transporter 2 (NPC2) is a small soluble glycoprotein localized predominantly within lysosomes, where it binds and transfers cholesterol and certain other sterols. NPC2 acts as a cholesterol shuttle, interacting with membranes—particularly through its hydrophobic knob domain and in cooperation with the lysosomal membrane protein NPC1 and the phospholipid LBPA—to facilitate the movement of cholesterol from lysosomes to other cellular compartments[1][2][3][4][5][7]. Deficiency or dysfunction of NPC2 leads to abnormal cholesterol accumulation in late endosomes and lysosomes, resulting in Niemann-Pick disease type C2, a severe neurodegenerative lysosomal storage disorder characterized by lipid accumulation, organ dysfunction, and premature death[1][2][4][8]. In addition to its essential roles in lipid metabolism, NPC2 also influences antigen presentation and immune cell development via its effects on lipid transfer and NKT cell selection[2]. Plasma NPC2 protein levels may serve as a biomarker for Niemann-Pick C diagnosis and monitoring[6].

Other names

Epididymal secretory protein E1Human epididymis-specific protein 1HE1NP-C2EDDM1NPC2_HUMANNiemann-Pick disease type C2 proteinMGC1333