ATXN2 FISH Probe
The ATXN2 FISH probe is designed to hybridize to the ATXN2 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 |
|---|---|---|---|---|
| ATXN2-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-RE | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-GO | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-GR | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-AQ | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-DIG | 20 (40 μL) | 200 μL |  |
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| ATXN2-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
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 Details
Gene Symbol: ATXN2
Gene Name: Ataxin 2
Chromosome: CHR12: 111890017-112037480
Locus: 12q24.12
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: ATXN2 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: ATXN2-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping