Recombinant Human ATXN2, His-tagged
Cat.No. : | ATXN2-10068H |
Product Overview : | Recombinant Human ATXN2 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose. |
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Description : | The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). 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 caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. |
Source : | E.coli |
Species : | Human |
Tag : | His |
Protein length : | 540-889a.a. |
Storage : | The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles. |
Storage Buffer : | 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol. |
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 |
Chromosome Location : | 12q23-q24.1 |
Function : | RNA binding; protein C-terminus binding; protein binding; |
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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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