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Official Symbol: | ATXN2 |
NCBI Gene ID: | 6311 |
Aliases: |
ATX2 SCA2 TNRC13 |
Official Full Name: | ataxin 2 |
Species: | human |
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]. |
There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.
Custom raPOOL Set Up Service
One-time raPOOL set up fee for a new gene. Price: € 529,00 |
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Includes design of new probes against target RNA. Charged on top of raPOOL 2, 5 or 10 price. Charged once only, subsequent order of raPOOL follows raPOOL-2, 5 or 10 pricing. |
raPOOL 10
10nmol raPOOL Price: € 1.155,00 |
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Amount provided: 10 nmol. Sufficient for 100 reactions. HPLC-purified, freeze-dried. |
raPOOL 2
2nmol raPOOL Price: € 325,00 |
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Amount provided: 2 nmol. Sufficient for 20 rxns. HPLC-purified, freeze-dried. |
raPOOL 5
5 nmol raPOOL Price: € 675,00 |
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Amount provided: 5 nmol. Sufficient for 50 reactions. HPLC-purified, freeze-dried. |