NPC1 Break Apart FISH Probe
Empire Genomics’ NPC1 Break Apart FISH Probe is designed to flank the NPC1 gene and is typically used for detecting NPC1 rearrangements such as translocations. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe comes labeled in green and orange by default, but may be customized to meet your needs.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| NPC1BA-20-GROR (Standard Design) | 20 (40 μL) | 200 μL |
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| NPC1BA-20-AQOR | 20 (40 μL) | 200 μL |
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| NPC1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| NPC1BA-20-GORE | 20 (40 μL) | 200 μL |
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| NPC1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| NPC1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| NPC1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| NPC1BA-20-REGO | 20 (40 μL) | 200 μL |
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| NPC1BA-20-REGR | 20 (40 μL) | 200 μL |
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Gene Summary
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]
Gene Details
Gene Symbol: NPC1
Gene Name: NPC Intracellular Cholesterol Transporter 1
Chromosome: CHR18: 21111462-21166581
Locus: 18q11.2
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: NPC1 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: NPC1-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping