PTRH2-PEX5L Fusion FISH Probe
The PTRH2-PEX5L Fusion FISH Probe is used to confirm a fusion of the PTRH2 and PEX5L genes. The fusion of the PTRH2 and PEX5L genes has been associated with Breast Invasive 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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| PTRH2-PEX5L-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-RERE | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-REOR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-REGO | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-REGR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-REAQ | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-ORRE | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-OROR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-ORGO | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-ORAQ | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GORE | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GOOR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GOGO | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GOGR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GOAQ | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GRRE | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GROR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GRGO | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GRGR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-GRAQ | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-AQRE | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-AQOR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-AQGO | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-AQGR | 20 (40 μL) | 200 μL |
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| PTRH2-PEX5L-20-AQAQ | 20 (40 μL) | 200 μL |
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PEX5L Gene Summary
The Peroxisomal Biogenesis Factor 5 Like (PEX5L) gene is located on chr3 :179518049-179754517 at 3q26.33.
Gene Name: Peroxisomal Biogenesis Factor 5 Like
Chromosome: CHR3: 179518049 -179754517
Locus: 3q26.33
PTRH2 Gene Summary
The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Gene Name: Peptidyl-tRNA Hydrolase 2
Chromosome: CHR17: 57774666 -57784856
Locus: 17q23.1
Gene Diseases
The PTRH2 PEX5L Fusion has been associated with the following diseases:
| Disease Name |
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| Breast Invasive Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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