MCFD2-TTC7A Fusion FISH Probe
The MCFD2-TTC7A Fusion FISH Probe is used to confirm a fusion of the MCFD2 and TTC7A genes. The fusion of the MCFD2 and TTC7A genes has been associated with Lung Squamous Cell Carcinoma, and Uterine Carcinosarcoma. 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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| MCFD2-TTC7A-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-RERE | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-REOR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-REGO | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-REGR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-REAQ | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-ORRE | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-OROR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-ORGO | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-ORAQ | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GORE | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GOOR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GOGO | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GOGR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GOAQ | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GRRE | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GROR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GRGO | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GRGR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-GRAQ | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-AQRE | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-AQOR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-AQGO | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-AQGR | 20 (40 μL) | 200 μL |
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| MCFD2-TTC7A-20-AQAQ | 20 (40 μL) | 200 μL |
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TTC7A Gene Summary
This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Name: Tetratricopeptide Repeat Domain 7A
Chromosome: CHR2: 47168312 -47303275
Locus: 2p21
MCFD2 Gene Summary
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Gene Name: Multiple Coagulation Factor Deficiency 2
Chromosome: CHR2: 47129008 -47168994
Locus: 2p21
Gene Diseases
The MCFD2 TTC7A Fusion has been associated with the following diseases:
| Disease Name |
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| Lung Squamous Cell Carcinoma |
| Uterine Carcinosarcoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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