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Description
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
Specifications
Specifications
| Antigen | NPC1 |
| Applications | ELISA, Immunohistochemistry, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Rabbit polyclonal antibody raised against synthetic peptide of NPC1. |
| Dilution | Western Blot (1-2 ug/mL) The optimal working dilution should be determined by the end user. |
| Formulation | In PBS (0.02% sodium azide) |
| Gene | NPC1 |
| Gene Alias | NPC |
| Gene Symbols | NPC1 |
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