SMPX-PDHA1 Fusion FISH Probe
The SMPX-PDHA1 Fusion FISH Probe is used to confirm a fusion of the SMPX and PDHA1 genes. The fusion of the SMPX and PDHA1 genes has been associated with Sarcoma. 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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| SMPX-PDHA1-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-RERE | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-REOR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-REGO | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-REGR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-REAQ | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-ORRE | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-OROR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-ORGO | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-ORAQ | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GORE | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GOOR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GOGO | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GOGR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GOAQ | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GRRE | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GROR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GRGO | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GRGR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-GRAQ | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-AQRE | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-AQOR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-AQGO | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-AQGR | 20 (40 μL) | 200 μL |
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| SMPX-PDHA1-20-AQAQ | 20 (40 μL) | 200 μL |
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PDHA1 Gene Summary
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Gene Name: Pyruvate Dehydrogenase E1 Alpha 1 Subunit
Chromosome: CHRX: 19362010 -19379825
Locus: Xp22.12
SMPX Gene Summary
This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Name: Small Muscle Protein, X-linked
Chromosome: CHRX: 21724090 -21776230
Locus: Xp22.12
Gene Diseases
The SMPX PDHA1 Fusion has been associated with the following diseases:
| Disease Name |
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| Sarcoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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