Recombinant Human Ataxin-2 (ATXN2) Protein (His)

Name: Recombinant Human Ataxin-2 (ATXN2) Protein (His)
Brand: Beta LifeScience
SKU: BLC-01014P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Ataxin-2 (ATXN2) Protein (His) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	Q99700
Target Symbol	ATXN2
Synonyms	(Spinocerebellar ataxia type 2 protein)(Trinucleotide repeat-containing gene 13 protein)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His
Target Protein Sequence	REGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSF
Expression Range	481-775aa
Protein Length	Partial
Mol. Weight	37.0 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
Subcellular Location	Cytoplasm.
Protein Families	Ataxin-2 family
Database References	HGNC: 10555 OMIM: 183090 KEGG: hsa:6311 STRING: 9606.ENSP00000366843 UniGene: PMID: 30194296 Intermediate-length ATXN2 repeat expansions might be a risk factor in Korean patients with ALS. PMID: 29665996 A novel variant in ATXN2 was identified in a Chinese population that was linked to age of onset in Machado-Joseph disease. PMID: 27452601 Among correlations found, such as that between dystonia and CAG expansion. Of note was the association between cognitive decline and the variant G at mitochondrial polymorphism A10398G, a variant formerly related to earlier ages at onset in SCA2. PMID: 28648514 SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia PMID: 28462804 Este es el primer estudio que permite sugerir la asociacion del polimorfismo (CAG)n del gen ATXN2 con el desarrollo de DM tipo 2 pura en poblacion de escasos recursos. Los alelos normales largos del VNTR son factores que aumentan el riesgo para DM tipo 2 pura en la poblacion mexicana analizada. PMID: 28076580 Deleterious non synonymous single nucleotide polymorphisms in ATXN2 Gene is associated with protein instability and conformational changes resulting in spinocerebellar ataxia. PMID: 28612427 Intermediate expansions of the CAG repeat in ATXN2 are associated with amyotrophic lateral sclerosis. They are mostly associated with TDP-43 proteinopathy, but not with 1C2-positive polyglutamine inclusions. PMID: 26095883 The findings of this sstudy suggest that ATXN2 may modify the known PINK1 roles for mitochondrial quality control and autophagy during cell stress. PMID: 27597528 The conclusion pof this study , the transcriptome data do not exclude the role of ATXN2 mutated alleles in Parkinson disease but its decrease protein expression in both SCA2c and SCA2p patients suggest a potential involvement of this gene in Parkinson disease. PMID: 27663142 C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family. PMID: 28124431 Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS. PMID: 28527524 Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk. PMID: 28017481 While depletion of C9ORF72 only has a partial deleterious effect on neuron survival, it synergizes with the toxicity of Ataxin-2 carrying intermediate length of polyglutamine expansions to induce motor neuron dysfunction and neuronal cell death. PMID: 27103069 ATXN2-AS, a gene antisense to ATXN2 has a role in SCA2 and possibly ALS pathogenesis. PMID: 27531668 It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. PMID: 26733254 Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene. PMID: 26599997 A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2, ATXN2, and FOXC1 PMID: 26752265 Data suggest that the spinocerebellar ataxia 2 protein (ATXN2, SCA2) CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease. PMID: 26663046 ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.( PMID: 26208502 FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated PMID: 25790475 This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. PMID: 25630585 ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS. PMID: 25457026 ATXN2 CAG expansion is the sole causative mutation responsible for parkinsonian phenotype of spinocerebellar ataxia-2. PMID: 25189117 results indicate presence of intermediate CAG repeat expansion in the ATXN2 gene is a specific genetic risk factor for amyotrophic lateral sclerosis [review, meta-anlysis] PMID: 25148523 Review of the role of epigenetics and the ATXN2 gene in spinocerebellar ataxia 2 and amyotrophic lateral sclerosis. PMID: 24485162 This study demonistrated that ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival in Italian population. PMID: 25527265 The data of this study showed that a total of 64.3% of familial and 27.8% of sporadic subjects carried potentially pathogenic novel or rare coding variants identified by sequencing or an expanded repeat in C9ORF72 or ATXN2. PMID: 25382069 this meta-analysis calculates association between ATXN2 CAG repeat alleles and increased risk of ALS across multiple ethnic groups. PMID: 25285812 Intermediate ATXN2 repeat lengths may render C9ORF72 expansion carriers more susceptible to the development of motorneuron disease. PMID: 24866401 Evidence supports the hypothesis of large normal alleles being a reservoir of expanded alleles in SCA2, related to autosomal dominant cerebellar ataxias. PMID: 23865735 the ATXN2 gene may confer vulnerability for Schizophrenia PMID: 24333172 ATXN2 intermediary repeat length is a strong risk factor for amyotrophic lateral sclerosis (ALS) and ALS-frontotemporal dementia [FTD-ALS]; propose ATXN2 polyQ expansions could act as a modifier of the FTD phenotype in the presence of C9orf72 repeat expansion, leading to development of clinical signs featuring both FTD and ALS PMID: 25098532 Cdk5 controls the abundance of both normal and polyQ-expanded ataxin-2 protein in neurons PMID: 24486837 Ataxin-2 is an RNA-binding protein that targets cis-regulatory elements in 3' UTRs to stabilize a subset of mRNAs and increase protein expression. PMID: 24954906 Couples with no family history of SCA2 may have a >0 % risk of having an affected offspring. Similarly, couples in which there is both an expanded and a large normal allele may have a recurrence risk >50 % PMID: 23813298 The pathological expansions (>34 repeats) of a CAG repeat in ATXN2, which encodes a polyglutamine tract in ataxin-2, cause spinocerebellar ataxia type 2, Intermediate-length expansions were reported to contribute to susceptibility to ALS PMID: 24085347 This study presented that early features of SCA2 are detectable before the onset of the cerebellar syndrome, and are associated with expanded CAG repeats and the time to onset of cerebellar syndrome. PMID: 24657153 the association of de novo mutations in ATXN2 with autosomal dominant amyotrophic lateral sclerosis PMID: 23936447 Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus. PMID: 23844121 Our data indicate that, for ALS patients from mainland China, intermediate CAG repeat expansions in ATXN2 increase the risk of a amyotrophic lateral sclerosis (ALS) but have no effect on disease phenotype PMID: 23635656 Data indicate that the expanded CAG repeat varied between 32 and 79 with a mean of 41.4 +/- 5.7 units. PMID: 22758789 Golgi fragmentation was enhanced, and the early stages of apoptosis were triggered, when ataxin-2 Q31 was co-expressed with mutant FUS. PMID: 23172909 ataxin 2 and ataxin 2-like have functional overlap, with ataxin-2-like having a role in the regulation of stress granules and processing bodies PMID: 23209657 observations suggest that genotyping of SNPs at this locus may be useful for the study of ALS risk in a high percentage of individuals and that ATXN2 and SH2B3 variants may interact in modulating the disease pathway PMID: 22916186 ETS1 regulates the expression of ATXN2. PMID: 22914732 ataxin-2 has roles in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS) PMID: 23048034 This study demonistrated that ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. PMID: 22868089 ATXN2 associated polyglutamine amplification is specific to the amyotrophic lateral sclerosis-end of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis disease spectrum. PMID: 22035589 our findings indicate that only ATAXIN-2 alleles with >/= 31 CAG may represent low-penetrance disease/susceptibility alleles associated with variable neurodegenerative phenotypes, including cerebellar ataxia, parkinsonism, and ALS. PMID: 22425256

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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