
| Species: | Rabbit |
| Applications: | WB IHC IF |
| Immunogen Range: | KLH conjugated synthetic peptide derived from human NPC1/Niemann Pick C1 |
| Clonality: | Polyclonal Antibody |
| Isotype: | IgG |
| GENE ID: | 4864 |
| Swiss Prot: | |
| Synonyms: | Niemann Pick C1, Niemann Pick C1 protein precursor, Niemann Pick disease, type C1, Niemann-Pick C1 protein, NPC, NPC1, NPC1_HUMAN. |
| Purification: | Purified by Protein A. |
| Storage: | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
| 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]. |
| Caculated MW: | / |
| Observed MW: | Refer to Figures |
| Applications: |
WB 1:100-1:1000 IHC 1:100-1:500 IF 1:50-1:200 |
| Reacitivity: | Human, Mouse, Rat |