ATP2C1-MBNL1 Fusion FISH Probe
The ATP2C1-MBNL1 Fusion FISH Probe is used to confirm a fusion of the ATP2C1 and MBNL1 genes. The fusion of the ATP2C1 and MBNL1 genes has been associated with Lung Squamous Cell 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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| ATP2C1-MBNL1-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-RERE | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-REOR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-REGO | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-REGR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-REAQ | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-ORRE | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-OROR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-ORGO | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-ORAQ | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GORE | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GOOR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GOGO | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GOGR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GOAQ | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GRRE | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GROR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GRGO | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GRGR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-GRAQ | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-AQRE | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-AQOR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-AQGO | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-AQGR | 20 (40 μL) | 200 μL |
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| ATP2C1-MBNL1-20-AQAQ | 20 (40 μL) | 200 μL |
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MBNL1 Gene Summary
This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
Gene Name: Muscleblind Like Splicing Regulator 1
Chromosome: CHR3: 151985828 -152183568
Locus: 3q25.1-q25.2
ATP2C1 Gene Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Gene Name: ATPase Secretory Pathway Ca2+ Transporting 1
Chromosome: CHR3: 130569368 -130735555
Locus: 3q22.1
Gene Diseases
The ATP2C1 MBNL1 Fusion has been associated with the following diseases:
| Disease Name |
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| Lung Squamous Cell Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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