MCFD2 Break Apart FISH Probe
Empire Genomics’ MCFD2 Break Apart FISH Probe is designed to flank the MCFD2 gene and is typically used for detecting MCFD2 rearrangements such as translocations. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe comes labeled in green and orange by default, but may be customized to meet your needs.
** 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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| MCFD2BA-20-GROR (Standard Design) | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-AQOR | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-GOGR | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-GORE | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-GRGO | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-GRRE | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-ORGR | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-REGO | 20 (40 μL) | 200 μL |
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| MCFD2BA-20-REGR | 20 (40 μL) | 200 μL |
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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 Details
Gene Symbol: MCFD2
Gene Name: Multiple Coagulation Factor Deficiency 2
Chromosome: CHR2: 47129008-47168994
Locus: 2p21
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: MCFD2 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: MCFD2-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping