在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

ATXN2 Antibody, HRP conjugated

  • 中文名稱:
    ATXN2兔多克隆抗體, HRP偶聯
  • 貨號:
    CSB-PA859520LB01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) ATXN2 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    ATXN2
  • 別名:
    ASL13 antibody; Ataxin 2 antibody; Ataxin-2 antibody; ATX2_HUMAN antibody; Atxn2 antibody; Olivopontocerebellar ataxia 2; autosomal dominant antibody; SCA2 antibody; Spinocerebellar ataxia type 2 protein antibody; TNRC13 antibody; Trinucleotide repeat containing 13 antibody; Trinucleotide repeat containing gene 13 protein antibody; Trinucleotide repeat-containing gene 13 protein antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Ataxin-2 protein (174-383AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    HRP
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
  • 基因功能參考文獻:
    1. STAU1 is recruited to mutant ATXN2 aggregates in spinocerebellar ataxia type 2 fibroblasts. PMID: 30194296
    2. Intermediate-length ATXN2 repeat expansions might be a risk factor in Korean patients with ALS. PMID: 29665996
    3. A novel variant in ATXN2 was identified in a Chinese population that was linked to age of onset in Machado-Joseph disease. PMID: 27452601
    4. 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
    5. SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia PMID: 28462804
    6. 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
    7. Deleterious non synonymous single nucleotide polymorphisms in ATXN2 Gene is associated with protein instability and conformational changes resulting in spinocerebellar ataxia. PMID: 28612427
    8. 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
    9. 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
    10. 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
    11. C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family. PMID: 28124431
    12. 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
    13. Intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk. PMID: 28017481
    14. 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
    15. ATXN2-AS, a gene antisense to ATXN2 has a role in SCA2 and possibly ALS pathogenesis. PMID: 27531668
    16. It is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. PMID: 26733254
    17. Selective loss of Purkinje cells in the cerebellar vermis of amyotrophic lateral sclerosis cases with intermediate repeat expansions in the ATXN2 gene. PMID: 26599997
    18. A meta-analysis of the top SNPs identified three new associated loci in primary open angle glaucoma--TXNRD2, ATXN2, and FOXC1 PMID: 26752265
    19. 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
    20. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.( PMID: 26208502
    21. FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated PMID: 25790475
    22. This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype. PMID: 25630585
    23. ATXN2 intermediate-length polyglutamine expansions greater than 24 and 27 repeats were associated with sporadic ALS. PMID: 25457026
    24. ATXN2 CAG expansion is the sole causative mutation responsible for parkinsonian phenotype of spinocerebellar ataxia-2. PMID: 25189117
    25. 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
    26. Review of the role of epigenetics and the ATXN2 gene in spinocerebellar ataxia 2 and amyotrophic lateral sclerosis. PMID: 24485162
    27. This study demonistrated that ATXN2 polyQ intermediate-length repeat is a modifier of ALS survival in Italian population. PMID: 25527265
    28. 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
    29. this meta-analysis calculates association between ATXN2 CAG repeat alleles and increased risk of ALS across multiple ethnic groups. PMID: 25285812
    30. Intermediate ATXN2 repeat lengths may render C9ORF72 expansion carriers more susceptible to the development of motorneuron disease. PMID: 24866401
    31. Evidence supports the hypothesis of large normal alleles being a reservoir of expanded alleles in SCA2, related to autosomal dominant cerebellar ataxias. PMID: 23865735
    32. the ATXN2 gene may confer vulnerability for Schizophrenia PMID: 24333172
    33. 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
    34. Cdk5 controls the abundance of both normal and polyQ-expanded ataxin-2 protein in neurons PMID: 24486837
    35. 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
    36. 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
    37. 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
    38. 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
    39. the association of de novo mutations in ATXN2 with autosomal dominant amyotrophic lateral sclerosis PMID: 23936447
    40. Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus. PMID: 23844121
    41. 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
    42. Data indicate that the expanded CAG repeat varied between 32 and 79 with a mean of 41.4 +/- 5.7 units. PMID: 22758789
    43. Golgi fragmentation was enhanced, and the early stages of apoptosis were triggered, when ataxin-2 Q31 was co-expressed with mutant FUS. PMID: 23172909
    44. 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
    45. 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
    46. ETS1 regulates the expression of ATXN2. PMID: 22914732
    47. ataxin-2 has roles in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS) PMID: 23048034
    48. 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
    49. ATXN2 associated polyglutamine amplification is specific to the amyotrophic lateral sclerosis-end of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis disease spectrum. PMID: 22035589
    50. 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

    顯示更多

    收起更多

  • 相關疾?。?/div>
    Spinocerebellar ataxia 2 (SCA2); Amyotrophic lateral sclerosis 13 (ALS13)
  • 亞細胞定位:
    Cytoplasm.
  • 蛋白家族:
    Ataxin-2 family
  • 組織特異性:
    Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus cal
  • 數據庫鏈接:

    HGNC: 10555

    OMIM: 183090

    KEGG: hsa:6311

    STRING: 9606.ENSP00000366843

    UniGene: Hs.732512



主站蜘蛛池模板: 亚洲国产成人精品激情姿源 | 国模欢欢炮交啪啪150| 在阳台上玩弄人妻的乳球| 久久久久久久波多野结衣高潮| 日本精品aⅴ一区二区三区| 国产又大又黑又粗免费视频| 精品一区二区三区在线观看视频| 尹人香蕉久久99天天拍欧美p7 | 18禁超污无遮挡无码免费动态图| 亚洲人成影院在线观看| 国产真实伦对白全集| 亚洲一区天堂九一| 无人区乱码区1卡2卡三卡网站| 中文字幕网伦射乱中文| 又色又爽又高潮免费视频国产| 四川骚妇无套内射舔了更爽| 怡红院一区二区三区在线| 国产男女猛烈无遮挡a片漫画| 久久99国产精品成人| 国产人与禽zoz0性伦| 成年性午夜无码免费视频| 99久久精品国产免费| 国产精品无码翘臀在线观看| a国产在线v的不卡视频| 欧美video性欧美熟妇| 真实国产乱子伦对白在线播放| 国产精品视频永久免费播放| 日韩成人无码| 内射视频←www夜| 久久精品噜噜噜成人av| 久久久久人妻精品一区蜜桃| 中文文字幕文字幕亚洲色| 无码抽搐高潮喷水流白浆| 亚洲爆乳无码精品aaa片蜜桃| 在线观看免费网页欧美成| 亚洲国产成人久久综合一区77| 男女性高爱潮免费网站| 少妇与黑人一二三区无码| 久久精品国产99久久久小说| 亚洲精品久久久久国产| 无码人妻精品一区二区蜜桃网站|