This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.
Aliases: NPC
Entrez GeneID: 4864
Swissprot: O15118
WB Predicted band size : 142.2kDa
Host/Isotype : Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human NPC1 (AA: 34-174) expressed in E. Coli.
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