LMAN1IP FISH Probe
The LMAN1IP FISH probe is designed to hybridize to the LMAN1IP gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** 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 |
|---|---|---|---|---|
| MCFD2-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-RE | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-GO | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-GR | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-AQ | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-DIG | 20 (40 μL) | 200 μL |  |
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| MCFD2-20-BIO | 20 (40 μL) | 200 μL |  |
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: LMAN1IP 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