COL18A1-MYOF Fusion FISH Probe
The COL18A1-MYOF Fusion FISH Probe is used to confirm a fusion of the COL18A1 and MYOF genes. The fusion of the COL18A1 and MYOF genes has been associated with Uterine Corpus Endometrial 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.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| COL18A1-MYOF-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-RERE | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-REOR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-REGO | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-REGR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-REAQ | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-ORRE | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-OROR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-ORGO | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-ORAQ | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GORE | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GOOR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GOGO | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GOGR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GOAQ | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GRRE | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GROR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GRGO | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GRGR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-GRAQ | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-AQRE | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-AQOR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-AQGO | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-AQGR | 20 (40 μL) | 200 μL |
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| COL18A1-MYOF-20-AQAQ | 20 (40 μL) | 200 μL |
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MYOF Gene Summary
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Gene Name: Myoferlin
Chromosome: CHR10: 95066185 -95242074
Locus: 10q23.33
COL18A1 Gene Summary
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Name: Collagen Type XVIII Alpha 1 Chain
Chromosome: CHR21: 46825096 -46933634
Locus: 21q22.3
Gene Diseases
The COL18A1 MYOF Fusion has been associated with the following diseases:
| Disease Name |
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| Uterine Corpus Endometrial Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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