| Source: | Rabbit | Gene Id: | 4864 | 
| Isotype: | IgG | Swiss Prot: | |
| purity: | Purified by Protein A. | 
| Background: | 
| 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.[provided by RefSeq, Aug 2009]. | 
| Reactivity | Human, Mouse, Rat | 
| Tested applications | WB IHC IF | 
| Clonality | Polyclonal Antibody | 
| Calculated MW | / | 
| Recommended Dilutions | 
                                     WB 1:100-1:1000 
                                    IHC 1:100-1:500 
                                    IF 1:50-1:200 
                                    
                                    
                                    
                                    
                                 | 
                            
| Immunogen | KLH conjugated synthetic peptide derived from human NPC1/Niemann Pick C1 | 
| Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months | 
| Synonym | Niemann Pick C1, Niemann Pick C1 protein precursor, Niemann Pick disease, type C1, Niemann-Pick C1 protein, NPC, NPC1, NPC1_HUMAN. | 
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