Gene-specific Break Apart Probe-ATXN2

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Catalog:	GBAFP-ATXN2-00603
Classification:	Gene-specific Break Apart Probes
Description:	Our Gene-specific Break Apart Probes usually target the flanks of the target gene (ATXN2). 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:	ATXN2 Gene-specific Break Apart Probe is designed to detect potential ATXN2 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	Ataxin 2
Gene Summary [Provided by RefSeq]	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Gene Symbol	ATXN2
Location	12q24.12
Chromosome	Chromosome12
Coordinates	This gene maps to 111890017-112037480 in GRCh37 coordinates.
Species	Human

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