HLA-B-CBS Fusion FISH Probe
The HLA-B-CBS Fusion FISH Probe is used to confirm a fusion of the HLA-B and CBS genes. The fusion of the HLA-B and CBS genes has been associated with Uterine Corpus Endometrial 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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| HLA-B-CBS-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-RERE | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-REOR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-REGO | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-REGR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-REAQ | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-ORRE | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-OROR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-ORGO | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-ORAQ | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GORE | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GOOR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GOGO | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GOGR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GOAQ | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GRRE | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GROR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GRGO | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GRGR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-GRAQ | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-AQRE | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-AQOR | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-AQGO | 20 (40 μL) | 200 μL |
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| HLA-B-CBS-20-AQGR | 20 (40 μL) | 200 μL |
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| HLA-B-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
HLA-B Gene Summary
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
Gene Name: Major Histocompatibility Complex, Class I, B
Chromosome: CHR6_mcf_hap5: 2701428 -2704782
Locus: 6p21.33
Gene Diseases
The HLA-B CBS Fusion has been associated with the following diseases:
| Disease Name |
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| Uterine Corpus Endometrial Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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