PMM2-ABAT Fusion FISH Probe
The PMM2-ABAT Fusion FISH Probe is used to confirm a fusion of the PMM2 and ABAT genes. The fusion of the PMM2 and ABAT 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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| PMM2-ABAT-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-RERE | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-REOR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-REGO | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-REGR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-REAQ | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-ORRE | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-OROR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-ORGO | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-ORAQ | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GORE | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GOOR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GOGO | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GOGR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GOAQ | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GRRE | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GROR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GRGO | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GRGR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-GRAQ | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-AQRE | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-AQOR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-AQGO | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-AQGR | 20 (40 μL) | 200 μL |
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| PMM2-ABAT-20-AQAQ | 20 (40 μL) | 200 μL |
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ABAT Gene Summary
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Name: 4-aminobutyrate Aminotransferase
Chromosome: CHR16: 8768443 -8878432
Locus: 16p13.2
PMM2 Gene Summary
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
Gene Name: Phosphomannomutase 2
Chromosome: CHR16: 8891669 -8943194
Locus: 16p13.2
Gene Diseases
The PMM2 ABAT 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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