VPS33A-ATXN2 Fusion FISH Probe
The VPS33A-ATXN2 Fusion FISH Probe is used to confirm a fusion of the VPS33A and ATXN2 genes. The fusion of the VPS33A and ATXN2 genes has been associated with Brain Lower Grade Glioma. 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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| VPS33A-ATXN2-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-RERE | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-REOR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-REGO | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-REGR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-REAQ | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-ORRE | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-OROR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-ORGO | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-ORAQ | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GORE | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GOOR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GOGO | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GOGR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GOAQ | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GRRE | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GROR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GRGO | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GRGR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-GRAQ | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-AQRE | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-AQOR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-AQGO | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-AQGR | 20 (40 μL) | 200 μL |
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| VPS33A-ATXN2-20-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
VPS33A Gene Summary
This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]
Gene Name: VPS33A, CORVET/HOPS Core Subunit
Chromosome: CHR12: 122716093 -122751068
Locus: 12q24.31
Gene Diseases
The VPS33A ATXN2 Fusion has been associated with the following diseases:
| Disease Name |
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| Brain Lower Grade Glioma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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