ATXN2-BRAP Fusion FISH Probe
The ATXN2-BRAP Fusion FISH Probe is used to confirm a fusion of the ATXN2 and BRAP genes. The fusion of the ATXN2 and BRAP genes has been associated with Bladder Urothelial Carcinoma. 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. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| ATXN2-BRAP-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-RERE | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-REOR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-REGO | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-REGR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-REAQ | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-ORRE | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-OROR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-ORGO | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-ORAQ | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GORE | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GOOR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GOGO | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GOGR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GOAQ | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GRRE | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GROR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GRGO | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GRGR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-GRAQ | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-AQRE | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-AQOR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-AQGO | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-AQGR | 20 (40 μL) | 200 μL |
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| ATXN2-BRAP-20-AQAQ | 20 (40 μL) | 200 μL |
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ATXN2 Gene Summary
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Gene Name: Ataxin 2
Chromosome: CHR12: 111890017 -112037480
Locus: 12q24.12
BRAP Gene Summary
The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
Gene Name: BRCA1 Associated Protein
Chromosome: CHR12: 112079949 -112123790
Locus: 12q24.12
Gene Diseases
The ATXN2 BRAP Fusion has been associated with the following diseases:
| Disease Name |
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| Bladder Urothelial Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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