ATP6V1D-CBS Fusion FISH Probe
The ATP6V1D-CBS Fusion FISH Probe is used to confirm a fusion of the ATP6V1D and CBS genes. The fusion of the ATP6V1D and CBS genes has been associated with Prostate Adenocarcinoma. 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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| ATP6V1D-CBS-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-RERE | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-REOR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-REGO | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-REGR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-REAQ | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-ORRE | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-OROR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-ORGO | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-ORAQ | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GORE | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GOOR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GOGO | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GOGR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GOAQ | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GRRE | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GROR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GRGO | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GRGR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-GRAQ | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-AQRE | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-AQOR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-AQGO | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-AQGR | 20 (40 μL) | 200 μL |
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| ATP6V1D-CBS-20-AQAQ | 20 (40 μL) | 200 μL |
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CBS Gene Summary
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Gene Name: Cystathionine-beta-synthase
Chromosome: CHR21: 44473300 -44496472
Locus: 21q22.3
ATP6V1D Gene Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
Gene Name: ATPase H+ Transporting V1 Subunit D
Chromosome: CHR14: 67804580 -67826720
Locus: 14q23.3
Gene Diseases
The ATP6V1D CBS Fusion has been associated with the following diseases:
| Disease Name |
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| Prostate Adenocarcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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