ACTN4-RYR1 Fusion FISH Probe
The ACTN4-RYR1 Fusion FISH Probe is used to confirm a fusion of the ACTN4 and RYR1 genes. The fusion of the ACTN4 and RYR1 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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| ACTN4-RYR1-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-RERE | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-REOR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-REGO | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-REGR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-REAQ | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-ORRE | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-OROR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-ORGO | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-ORAQ | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GORE | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GOOR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GOGO | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GOGR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GOAQ | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GRRE | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GROR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GRGO | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GRGR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-GRAQ | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-AQRE | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-AQOR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-AQGO | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-AQGR | 20 (40 μL) | 200 μL |
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| ACTN4-RYR1-20-AQAQ | 20 (40 μL) | 200 μL |
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ACTN4 Gene Summary
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
Gene Name: Actinin Alpha 4
Chromosome: CHR19: 39138266 -39221171
Locus: 19q13.2
RYR1 Gene Summary
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Name: Ryanodine Receptor 1
Chromosome: CHR19: 38924339 -39078204
Locus: 19q13.2
Gene Diseases
The ACTN4 RYR1 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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