PCSK5-COL18A1 Fusion FISH Probe
The PCSK5-COL18A1 Fusion FISH Probe is used to confirm a fusion of the PCSK5 and COL18A1 genes. The fusion of the PCSK5 and COL18A1 genes has been associated with Pheochromocytoma And Paraganglioma. 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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| PCSK5-COL18A1-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-RERE | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-REOR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-REGO | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-REGR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-REAQ | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-ORRE | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-OROR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-ORGO | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-ORAQ | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GORE | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GOOR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GOGO | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GOGR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GOAQ | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GRRE | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GROR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GRGO | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GRGR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-GRAQ | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-AQRE | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-AQOR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-AQGO | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-AQGR | 20 (40 μL) | 200 μL |
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| PCSK5-COL18A1-20-AQAQ | 20 (40 μL) | 200 μL |
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PCSK5 Gene Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]
Gene Name: Proprotein Convertase Subtilisin/kexin Type 5
Chromosome: CHR9: 78505559 -78977255
Locus: 9q21.13
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 PCSK5 COL18A1 Fusion has been associated with the following diseases:
| Disease Name |
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| Pheochromocytoma And Paraganglioma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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