ATXN1-DTNBP1 Fusion FISH Probe
The ATXN1-DTNBP1 Fusion FISH Probe is used to confirm a fusion of the ATXN1 and DTNBP1 genes. The fusion of the ATXN1 and DTNBP1 genes has been associated with Liver Hepatocellular 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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| ATXN1-DTNBP1-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-RERE | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-REOR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-REGO | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-REGR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-REAQ | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-ORRE | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-OROR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-ORGO | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-ORAQ | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GORE | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GOOR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GOGO | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GOGR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GOAQ | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GRRE | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GROR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GRGO | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GRGR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-GRAQ | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-AQRE | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-AQOR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-AQGO | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-AQGR | 20 (40 μL) | 200 μL |
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| ATXN1-DTNBP1-20-AQAQ | 20 (40 μL) | 200 μL |
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ATXN1 Gene Summary
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
Gene Name: Ataxin 1
Chromosome: CHR6: 16299342 -16761721
Locus: 6p22.3
DTNBP1 Gene Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Name: Dystrobrevin Binding Protein 1
Chromosome: CHR6: 15523031 -15663289
Locus: 6p22.3
Gene Diseases
The ATXN1 DTNBP1 Fusion has been associated with the following diseases:
| Disease Name |
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| Liver Hepatocellular Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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