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NPC1 Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a partial recombinant NPC1.
- SPECIFICATION
- CITATIONS: 1
- PROTOCOLS
- BACKGROUND
Application 
| WB, E |
|---|---|
| Primary Accession | O15118 |
| Other Accession | BC063302 |
| Reactivity | Human |
| Host | mouse |
| Clonality | Monoclonal |
| Isotype | IgG2a Kappa |
| Clone Names | 4H2 |
| Calculated MW | 142167 Da |
| Gene ID | 4864 |
|---|---|
| Other Names | Niemann-Pick C1 protein, NPC1 |
| Target/Specificity | NPC1 (AAH63302, 151 a.a. ~ 250 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. |
| Dilution | WB~~1:500~1000 |
| Format | Clear, colorless solution in phosphate buffered saline, pH 7.2 . |
| Storage | Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. |
| Precautions | NPC1 Antibody (monoclonal) (M02) is for research use only and not for use in diagnostic or therapeutic procedures. |
Provided below are standard protocols that you may find useful for product applications.
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.
References
Variation at the NFATC2 Locus Increases the Risk of Thiazolinedinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study. Bailey SD, et al. Diabetes Care, 2010 Jul 13. PMID 20628086.Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. Fontaine-Bisson B, et al. Diabetologia, 2010 Oct. PMID 20571754.Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk. Rodr?guez-Rodr?guez E, et al. J Alzheimers Dis, 2010 Jan 1. PMID 20571217.Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease. K?gedal K, et al. Biochim Biophys Acta, 2010 Aug. PMID 20497909.Niemann-Pick C1 modulates hepatic triglyceride metabolism and its genetic variation contributes to serum triglyceride levels. Uronen RL, et al. Arterioscler Thromb Vasc Biol, 2010 Aug. PMID 20489167.
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