Recombinant Human ATXN2 Protein, His-Tagged

• Cat.No.: ATXN2-01H
• Product Overview: Recombinant Human ATXN2 Protein, His-tagged was expressed in E.coli cell

Specification

• 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.
• Source: Escherichia coli
• Species: Human
• Tag: His
• Molecular Mass: The protein has a calculated MW of 53.13 kDa.
• AA Sequence: MTPSGPVLASPQAGIIPTEAVAMPI PAASPTPASPASNRAVTPSSEAKDS RLQDQRQNSPAGNKENIKPNETSPS FSKAENKGISPVVSEHRKQIDDLKK FKNDFRLQPSSTSESMDQLLNKNRE GEKSRDLIKDKIEPSAKDSFIENSS SNCTSGSSKPNSPSISPSILSNTEH KRGPEVTSQGVQTSSPACKQEKDDK EEKKDAAEQVRKSTLNPNAKEFNPR SFSQPKPSTTPTSPRPQAQPSPSMV GHQQPTPVYTQPVCFAPNMMYPVPV SPGVQPLYPIPMTPMPVNQAKTYRA VPNMPQQRQDQHHQSAMMHPASAAG PPIAATPPAYSTQYVAYSPQQFPNQ PLVQHVPHYQSQHPHVYSPVIQGNA RMMAPPTHAQPGLVSSSATQYGAHE QTHAMYACPKLPYNKETSPSFYFAI STGSLAQQYAHPNATLHPHTPHPQP SATPTGQQQSQHGGSHPAPSPVQHH QHQAAQLEHHHHHH
• Purity: ＞80% by SDS-PAGE
• Storage: Store it at -20 to -80 ºC. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
• Concentration: 0.5 mg/mL
• Storage Buffer: PBS, 300mM NaCl, 10% glycerol, pH 7.4

Gene Information

• Gene Name: ATXN2 ataxin 2 [ Homo sapiens (human) ]
• Official Symbol: ATXN2
• Synonyms: ATX2; SCA2; TNRC13
• Gene ID: 6311
• mRNA Refseq: NM_001310121.1
• Protein Refseq: NP_001297050.1
• MIM: 601517
• UniProt ID: F8VQP2

Reviews

09/14/2021

The use of biodegradable materials by manufacturers in their packaging and shipping materials further reduces the carbon footprint and environmental impact.

03/20/2021

Because ATXN2 has a short half-life, it allows for a more flexible treatment regimen with dose adjustment based on patient response and tolerance.

11/06/2020

Meticulous attention to detail and quality control by the manufacturer ensured that the product did not contain any impurities or contaminants.

Q&As

Is there a drug therapy related to ATXN2 protein?

No 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.

What is the regulatory mechanism of ATXN2 protein function?

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.

Does ATXN2 protein interact with other proteins?

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.

Which role of ATXN2 protein in humans?

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.

Is ATXN2 protein associated with other neurological diseases?

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.

What progress has been made in ATXN2 protein research?

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.