Goat ATXN2 Polyclonal Antibody | anti-ATXN2 antibody
Goat anti-ATXN2 Antibody
Western Blot: Preliminary experiments in Human Brain (Cerebellum and Cerebral Cortex) lysates gave no specific signal but low background (at antibody concentration up to 1ug/ml).
NCBI and Uniprot Product Information
NCBI Description
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. 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, Jun 2015]
Uniprot Description
ataxin-2: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2); also known as olivopontocerebellar atrophy II (OPCA II or OPCA2). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease. Defects in ATXN2 are a cause of susceptibility to amyotrophic lateral sclerosis type 13 (ALS13). It is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. An increased risk for developing amyotrophic lateral sclerosis is seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia. Belongs to the ataxin-2 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Translation; RNA-binding
Chromosomal Location of Human Ortholog: 12q24.1
Cellular Component: cytoplasm; Golgi apparatus; membrane; nucleoplasm; perinuclear region of cytoplasm; polysome; ribonucleoprotein complex; stress granule; trans-Golgi network
Molecular Function: epidermal growth factor receptor binding; protein binding; protein C-terminus binding; RNA binding
Biological Process: cytoplasmic mRNA processing body assembly; negative regulation of receptor internalization; regulation of translation; RNA metabolic process; RNA transport; stress granule assembly
Disease: Parkinson Disease, Late-onset; Spinocerebellar Ataxia 2
Research Articles on ATXN2
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Product Notes
The ATXN2 atxn2 (Catalog #AAA422426) is an Antibody produced from Goat and is intended for research purposes only. The product is available for immediate purchase. The Goat anti-ATXN2 Antibody reacts with Expected from sequence similarity: Human, Mouse, Dog, Cow, Pig and may cross-react with other species as described in the data sheet. AAA Biotech's ATXN2 can be used in a range of immunoassay formats including, but not limited to, Peptide ELISA (EIA). Peptide ELISA: Antibody detection limit dilution 1: 2000. Western Blot: Preliminary experiments in Human Brain (Cerebellum and Cerebral Cortex) lysates gave no specific signal but low background (at antibody concentration up to 1ug/ml). Researchers should empirically determine the suitability of the ATXN2 atxn2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: SEREGHSINT R. It is sometimes possible for the material contained within the vial of "ATXN2, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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