Niemann Pick C1 Antibody / NPC1

Western blot: 0.5-1ug/ml,Direct ELISA: 0.1-0.5ug/ml

Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans it is encoded by the NPC1 gene (chromosome location 18q11). 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-absorbance 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.

Antigen affinity purified

0.5mg/ml if reconstituted with 0.2ml sterile DI water

E. coli-derived recombinant human protein (amino acids R116-D620) was used as the immunogen for the Niemann Pick C1 antibody.

Antigen affinity purified

O15118