Recombinant Human ATXN2 protein, GST-tagged
Cat.No. : | ATXN2-1031H |
Product Overview : | Human ATXN2 partial ORF ( NP_002964, 1214 a.a. - 1313 a.a.) recombinant protein with GST-tag at N-terminal. |
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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 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] |
Source : | Wheat Germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 36.74 kDa |
AA Sequence : | PQNSFPAAQQTVFTIHPSHVQPAYT NPPHMAHVPQAHVQSGMVPSHPTAH APMMLMTTQPPGGPQAALAQSALQP IPVSTTAHFPYMTHPSVQAHHQQQL |
Applications : | Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array |
Notes : | Best use within three months from the date of receipt of this protein. |
Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | ATXN2 ataxin 2 [ Homo sapiens ] |
Official Symbol : | ATXN2 |
Synonyms : | ATXN2; ataxin 2; SCA2, spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) , TNRC13; ataxin-2; ATX2; trinucleotide repeat containing 13; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein; SCA2; TNRC13; FLJ46772; |
Gene ID : | 6311 |
mRNA Refseq : | NM_002973 |
Protein Refseq : | NP_002964 |
MIM : | 601517 |
UniProt ID : | Q99700 |
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For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (6)
Ask a questionNo specific drug therapy targeting ATXN2 protein has been identified. However, researchers are working hard to find ways to treat SCA2, including gene therapy and drug screening.
The function of ATXN2 protein is regulated by a variety of regulatory mechanisms, including the binding of transcriptional regulators and post-translational modifications. These regulatory mechanisms ensure the adaptability and stability of ATXN2 protein.
Yes, the ATXN2 protein interacts with multiple proteins to form complexes involved in the regulation of a variety of cellular functions. For example, ATXN2 interacts with PABPC1, RBFOX1 and other proteins and is involved in RNA stabilization and transcriptional regulation.
ATXN2 protein is involved in the regulation of a variety of neural cell functions, including transcription regulation, RNA processing, cell transport, etc. It plays an important role in the development and functional maintenance of the nervous system.
In addition to SCA2, ATXN2 protein may be involved in the development and progression of other neurological diseases. For example, it may be associated with the pathogenesis of neurodegenerative diseases such as Parkinson's disease and muscular dystrophy. However, further studies are needed to confirm these associations.
The research of ATXN2 protein mainly focuses on understanding its functional regulation mechanism, its relationship with the pathogenesis of SCA2, and the search for therapeutic methods for SCA2. Currently, several important advances have been made regarding the function of ATXN2 protein and the pathogenesis of SCA2.
Customer Reviews (3)
Write a reviewThe use of biodegradable materials by manufacturers in their packaging and shipping materials further reduces the carbon footprint and environmental impact.
Because ATXN2 has a short half-life, it allows for a more flexible treatment regimen with dose adjustment based on patient response and tolerance.
Meticulous attention to detail and quality control by the manufacturer ensured that the product did not contain any impurities or contaminants.
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