TBC1D5-HTT Fusion FISH Probe
The TBC1D5-HTT Fusion FISH Probe is used to confirm a fusion of the TBC1D5 and HTT genes. The fusion of the TBC1D5 and HTT genes has been associated with Kidney Renal Clear Cell 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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| TBC1D5-HTT-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-RERE | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-REOR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-REGO | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-REGR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-REAQ | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-ORRE | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-OROR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-ORGO | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-ORAQ | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GORE | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GOOR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GOGO | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GOGR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GOAQ | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GRRE | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GROR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GRGO | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GRGR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-GRAQ | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-AQRE | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-AQOR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-AQGO | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-AQGR | 20 (40 μL) | 200 μL |
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| TBC1D5-HTT-20-AQAQ | 20 (40 μL) | 200 μL |
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HTT Gene Summary
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
Gene Name: Huntingtin
Chromosome: CHR4: 3076407 -3245687
Locus: 4p16.3
TBC1D5 Gene Summary
The TBC1 Domain Family Member 5 (TBC1D5) gene is located on chr3 :17198653-17784240 at 3p24.3.
Gene Name: TBC1 Domain Family Member 5
Chromosome: CHR3: 17198653 -17784240
Locus: 3p24.3
Gene Diseases
The TBC1D5 HTT Fusion has been associated with the following diseases:
| Disease Name |
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| Kidney Renal Clear Cell Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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