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NPC1 Antibody
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC-P, IF, E |
|---|---|
| Primary Accession | O15118 |
| Other Accession | NP_000262, 4864 |
| Reactivity | Human, Mouse |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | IgG |
| Calculated MW | 142167 Da |
| Application Notes | NPC1 antibody can be used for detection of NPC1 by Western blot at 1 μg/mL. Antibody can also be used for immunohistochemistry starting at 2.5 μg/mL. For immunofluorescence start at 20 μg/mL. |
| Gene ID | 4864 |
|---|---|
| Target/Specificity | NPC1 antibody was raised against a 16 amino acid synthetic peptide from near the carboxy terminus of human NPC1. The immunogen is located within the last 50 amino acids of NPC1. |
| Reconstitution & Storage | Antibody can be stored at 4°C up to one year. Antibodies should not be exposed to prolonged high temperatures. |
| Precautions | NPC1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | NPC1 (HGNC:7897) |
|---|---|
| Function | Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760, PubMed:27378690). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 (PubMed:28336668). |
| Cellular Location | Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein |
Thousands of laboratories across the world have published research that depended on the performance of antibodies from Abcepta to advance their research. Check out links to articles that cite our products in major peer-reviewed journals, organized by research category.
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Provided below are standard protocols that you may find useful for product applications.
Background
NPC1 Antibody: Mutations in the Niemann-Pick disease type C1 (NPC1) gene result in a fatal progressive neurodegenerative disorder characterized by an abnormal sequestration of lipids including cholesterol and glycosphingolipids. The NPC1 protein is 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. NPC1 transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. NPC1, in addition to FTO, MC4R, and PTER has recently been shown to be a new risk loci for early-onset and morbid adult obesity in European populations. This anti-NPC1 antibody will not cross-react to NPC2, another gene whose defects also result in Niemann-Pick type C disease.
References
Karten B, Peake KB, and Vance JE. Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Biochim. Biophys. Acta2009; 1791:656-70.
Carstea ED, Polymeropoulos MH, Parker CC, et al. Linkage of Niemann-Pick disease type C to human chromosome 18. Proc. Natl. Acad. Sci. USA1993; 90:2002-4.
Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science1977; 277:228-31.
Garver WS and Heidenreich RA. The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system. Curr. Mol. Med.2002; 2:485-505.
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