NPC1-FGD4 Fusion FISH Probe
The NPC1-FGD4 Fusion FISH Probe is used to confirm a fusion of the NPC1 and FGD4 genes. The fusion of the NPC1 and FGD4 genes has been associated with Lung Adenocarcinoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.
** 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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| NPC1-FGD4-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-RERE | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-REOR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-REGO | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-REGR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-REAQ | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-ORRE | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-OROR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-ORGO | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-ORAQ | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GORE | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GOOR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GOGO | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GOGR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GOAQ | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GRRE | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GROR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GRGO | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GRGR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-GRAQ | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-AQRE | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-AQOR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-AQGO | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-AQGR | 20 (40 μL) | 200 μL |
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| NPC1-FGD4-20-AQAQ | 20 (40 μL) | 200 μL |
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NPC1 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 Name: NPC Intracellular Cholesterol Transporter 1
Chromosome: CHR18: 21111462 -21166581
Locus: 18q11.2
FGD4 Gene Summary
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Gene Name: FYVE, RhoGEF And PH Domain Containing 4
Chromosome: CHR12: 32655040 -32798984
Locus: 12p11.21
Gene Diseases
The NPC1 FGD4 Fusion has been associated with the following diseases:
| Disease Name |
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| Lung Adenocarcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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