NPC1 (E7S4N) Rabbit mAb #33422
- WB
- IHC
- IF
Supporting Data
| REACTIVITY | H M R |
| SENSITIVITY | Endogenous |
| MW (kDa) | 190 |
| Source/Isotype | Rabbit IgG |
Application Key:
- WB-Western Blotting
- IHC-Immunohistochemistry
- IF-Immunofluorescence
Species Cross-Reactivity Key:
- H-Human
- M-Mouse
- R-Rat
Product Information
Product Usage Information
| Application | Dilution |
|---|---|
| Western Blotting | 1:1000 |
| Immunohistochemistry (Paraffin) | 1:50 - 1:200 |
| Immunofluorescence (Immunocytochemistry) | 1:800 - 1:1600 |
Storage
Protocol
Specificity / Sensitivity
NPC1 (E7S4N) Rabbit mAb recognizes endogenous levels of total NPC1 protein.
Species Reactivity:
Human, Mouse, Rat
Source / Purification
Monoclonal antibody is produced by immunizing animals with a synthetic peptide corresponding to residues surrounding Arg1266 of human NPC1 protein.
Background
Niemann-Pick type C (NPC) disease is a lysosomal storage disease in which endocytosed cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) due to mutations in either the NPC1 or NPC2 gene, which encode NPC1 (Niemann-Pick type C1) or NPC2 (Niemann-Pick type C2) protein (1,2). NPC1 is a multipass transmembrane protein located at the LEs/Ls membrane, and NPC2 is located in the lumen of the vesicles. NPC2 directly binds to sequestered unesterified cholesterol in the lumen and delivers the cholesterol to the N-terminal domain of membrane-bound NPC1. The cholesterol further interacts with the sterol-sensing domain of NPC1 and is eventually exported from LEs/Ls to Golgi, ER, or plasma membrane (3,4). In cells with dysfunctional NPC1, cholesterol is sequestered in the lysosome, resulting in lysosomal dysfunction and NPC. Loss of function of NPC1 leads to progressive neurodegeneration (5), neuroinflammation and myelin defects, severe neonatal liver disease and lung failure, and immune dysfunction (1,6,7). Elevated NPC1 is linked to cancer progression and drug resistance. Reagents that target NPC1 activity provide opportunities for disease treatment strategies (8,9).
- Vanier, M.T. (2010) Orphanet J Rare Dis 5, 16.
- Carstea, E.D. et al. (1997) Science 277, 228-31.
- Lamri, A. et al. (2018) Endocr Rev 39, 192-220.
- Vance, J.E. and Karten, B. (2014) J Lipid Res 55, 1609-21.
- Tang, Y. et al. (2010) Clin Exp Pharmacol Physiol 37, 132-40.
- Bernardo, A. et al. (2021) Int J Mol Sci 22, 8858. doi: 10.3390/ijms22168858.
- Platt, N. et al. (2016) J Neurochem 136 Suppl 1, 74-80.
- Nguyen, M.K.L. et al. (2022) Int J Mol Sci 23, 7206. doi: 10.3390/ijms23137206.
- Tanaka, Y. et al. (2014) Mol Genet Metab Rep 1, 19-30.
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