Gene-specific Break Apart Probe-EPM2A

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Catalog:	GBAFP-EPM2A-02374
Classification:	Gene-specific Break Apart Probes
Description:	Our Gene-specific Break Apart Probes usually target the flanks of the target gene (EPM2A). Due to this design method, our probe products can detect chromosomal rearrangements, such as translocations, by FISH.The product usually consists of a reagent combination composed of a probe with a selected dye color and a hybridization reagent.
Application:	EPM2A Gene-specific Break Apart Probe is designed to detect potential EPM2A rearrangements. This probe has been confirmed on the metaphase and interphase chromosomes by FISH. We provide a variety of dye color combinations for Break Apart Probes for customers to choose from. Probe products not only provide some classic color combinations, but also provide customized probe services.
Quantity:	20 Tests
Probe Kits Volume (µL):	40 μL
Hybridization Solution (µL):	200 μL
Turnaround Time:	Within 10 Business Days
Shipping Time:	1-2 Day Expedited Shipping
Shipping Conditions:	-20℃
Storage Conditions:	Store at -20℃ and avoid light;

Gene Name	EPM2A, Laforin Glucan Phosphatase
Gene Summary [Provided by RefSeq]	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Gene Symbol	EPM2A
Location	6q24.3
Chromosome	Chromosome6
Coordinates	This gene maps to 145946439-146056991 in GRCh37 coordinates.
Species	Human

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