KDM6A-PDHX Fusion FISH Probe
The KDM6A-PDHX Fusion FISH Probe is used to confirm a fusion of the KDM6A and PDHX genes. The fusion of the KDM6A and PDHX 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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| KDM6A-PDHX-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-RERE | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-REOR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-REGO | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-REGR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-REAQ | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-ORRE | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-OROR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-ORGO | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-ORAQ | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GORE | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GOOR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GOGO | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GOGR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GOAQ | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GRRE | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GROR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GRGO | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GRGR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-GRAQ | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-AQRE | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-AQOR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-AQGO | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-AQGR | 20 (40 μL) | 200 μL |
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| KDM6A-PDHX-20-AQAQ | 20 (40 μL) | 200 μL |
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KDM6A Gene Summary
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Name: Lysine Demethylase 6A
Chromosome: CHRX: 44732422 -44971845
Locus: Xp11.3
PDHX Gene Summary
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Gene Name: Pyruvate Dehydrogenase Complex Component X
Chromosome: CHR11: 34937676 -35017675
Locus: 11p13
Gene Diseases
The KDM6A PDHX 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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