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Your search for "atxn2" returned 269 TaqMan® Gene Expression Assays
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 protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
|Protocol||Protocol: TaqMan® Gene Expression Assays||PDF, Unknown KB|
|App Note||Application Note: TaqMan® Gene Expression Assays Endogenous Controls||PDF, Unknown KB|
|QRC||QRC: TaqMan® Gene Expression Assays||PDF, Unknown KB|
|White Paper||Design Process for Gene Expression Assays||PDF, Unknown KB|
|White Paper||Gene Expression Assay Performance Guarantee||PDF, Unknown KB|
|White Paper||TaqMan® Assays shipped at ambient temperature retain their quality and stability||PDF, Unknown KB|
|Brochure||Understanding Your Shipment||PDF, Unknown KB|
|White Paper||Product Stability Study||PDF, Unknown KB|
|Spreadsheet||Pathogen Assay Information||XLSX, Unknown KB|
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