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

ALS2 Antibody

  • 中文名稱:
    ALS2兔多克隆抗體
  • 貨號:
    CSB-PA857009ESR2HU
  • 規格:
    ¥440
  • 圖片:
    • Immunohistochemistry of paraffin-embedded human breast cancer using CSB-PA857009ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human pancreatic tissue using CSB-PA857009ESR2HU at dilution of 1:100
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) ALS2 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    ALS2
  • 別名:
    ALS 2 antibody; ALS2 antibody; ALS2_HUMAN antibody; ALS2CR6 antibody; Alsin antibody; ALSJ antibody; Amyotrophic lateral sclerosis 2 (juvenile) antibody; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 6 antibody; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein antibody; Amyotrophic lateral sclerosis 2 protein antibody; Amyotrophic lateral sclerosis protein 2 antibody; FLJ31851 antibody; IAHSP antibody; KIAA1563 antibody; MGC87187 antibody; PLSJ antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Alsin protein (1-280AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA, IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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:
    May act as a GTPase regulator. Controls survival and growth of spinal motoneurons.
  • 基因功能參考文獻:
    1. This study identified a novel ALS2 pathogenic founder variant in Iran that further adds to the allelic heterogeneity of infantile-onset ascending hereditary spastic paralysis. PMID: 30128655
    2. Nonsense mutation in ALS2 gene is associated with severe and progressive infantile onset of spastic paralysis. PMID: 28502191
    3. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family PMID: 27601211
    4. This study identified two novel ALS2 mutations in two Pakistani families with infantile-onset ascending hereditary spastic paraplegia cosegregating with the disease. PMID: 26751646
    5. novel compound heterozygous ALS2 deletion mutations were identified in two siblings with infantile ascending hereditary spastic paraplegia. PMID: 25433428
    6. We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family PMID: 25474699
    7. Data indicate a splice-site mutation of the amyotrophic lateral sclerosis 2 (juvenile) protein (ALS2) in four children of a consanguineous family with infantile-onset ascending hereditary spastic paraplegia. PMID: 24704789
    8. The ALS2 gene should be screened for mutations in patients who present with generalized dystonia and cerebellar signs. PMID: 24562058
    9. The ALS2 mutation c.2761C>T leading to infantile-onset hereditary spastic paraplegia resides in the pleckstrin domain, which is involved in the overall neuronal development or maintenance. PMID: 24315819
    10. ALS2 sequencing revealed two heterozygous mutations: the missense variant c.299 G>T, leading to the replacement of a serine with an isoleucine (p.S100I), and the splicing variant c.2580-2 A>G in brothers with juvenile amyotrophic lateral sclerosis. PMID: 23282280
    11. these results suggest that Als2 is a binding partner of Uxt and Als2/Uxt interaction could be important for the activation of Nf-kappaB pathway. PMID: 21907703
    12. causative genes for familial amyotrophic lateral sclerosis PMID: 12138710
    13. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. PMID: 12145748
    14. 16 patients from 11 unrelated families were studied with a phenotype of infantile ascending hereditary spastic paralysis (IAHSP); Alsin mutations were found in 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family PMID: 12601111
    15. Perturbation of endosomal dynamics caused by loss of ALS2 rab5GEF activity might underlie neuronal dysfunction and degeneration. PMID: 12837691
    16. deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS. PMID: 12866199
    17. A nonsense mutation in alsin was found in infantile spastic paraplegia. Full-length alsin is probably required for the proper development and/or functioning of upper motor neurons. PMID: 12919135
    18. Mutations in the ALS2 gene linked to early-onset motor neuron disease uniformly produce loss of activity through decreased protein stability of this endosomal protein. PMID: 14668431
    19. Mutations of ALS2 are not a common cause of ALS. PMID: 14676054
    20. Expression of alsin LF, but not alsin short form, protected motor neuronal cells from toxicity induced by mutants of the Cu/Zn-superoxide dismutase (SOD1) gene, which cause autosomal dominant ALS PMID: 14970233
    21. oligomerization of the ALS2 protein is one of the fundamental features for its physiological function involving endosome dynamics in vivo PMID: 15247254
    22. A peptide derived from the ALS2 protein is selectively localized to the somatodendritic compartment of motor neurons in human spinal cord. PMID: 15371724
    23. These results suggest that amyotrophic lateral sclerosis 2 C-terminal like (ALS2CL), a novel ALS2 homologue, modulates Rab5-mediated endosome dynamics in HeLa cells. PMID: 15388334
    24. Rac1, PI3 kinase, and Akt3 have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 mutant-induced motoneuronal cell death PMID: 15579468
    25. ALS2/Alsin has a role in regulating Rac-PAK signaling and neurite outgrowth PMID: 16049005
    26. colocalization of Alsin with the centrosomal markers gamma-tubulin and A kinase anchoring protein. PMID: 16085057
    27. ALS2 mutations are not implicated in the pathogenesis of adult-onset primary lateral sclerosis. PMID: 17698795
    28. Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis. [REVIEW] PMID: 17955197
    29. mutations in ALS2 also need to be considered in patients from northwestern Europe with early-onset spastic paralysis and amyotrophic or primary lateral sclerosis. PMID: 18523452
    30. Results suggest at least four recombination events in the ALS2 gene during maternal meiosis followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation, in a patient with infantile-onset ascending spastic paralysis. PMID: 18810511
    31. A structural model for the N-terminal 690-residue region of alsin through comparative modelling based on regulator of chromosome condensation 1 was created. PMID: 19023603
    32. This novel ALS2 splice-site mutation is causing the loss of exon 18 in the transcript which results in a frameshift after exon 17. PMID: 19122027

    顯示更多

    收起更多

  • 相關疾病:
    Amyotrophic lateral sclerosis 2 (ALS2); Juvenile primary lateral sclerosis (JPLS); Infantile-onset ascending spastic paralysis (IAHSP)
  • 數據庫鏈接:

    HGNC: 443

    OMIM: 205100

    KEGG: hsa:57679

    STRING: 9606.ENSP00000264276

    UniGene: Hs.471096



主站蜘蛛池模板: 欧美黑人性暴力猛交喷水黑人巨大| 国产福利视频在线观看| 亚洲婷婷五月综合狠狠爱| 天堂а√中文最新版地址在线| 国产日产欧产美韩系列麻豆| 国产成人久久久精品二区三区| 特级a欧美做爰片第一次| 欧美大屁股熟妇bbbbbb| 18禁美女黄网站色大片免费看| 久青草国产97香蕉在线影院| 97色伦综合在线欧美视频| 日韩成人av无码一区二区三区| 国产黑色丝袜在线视频| 成人做爰免费视频免费看| 9久9久女女热精品视频在线观看 | 一二三四在线视频观看社区| 18禁裸乳无遮挡啪啪无码免费| 国产精品成人片在线观看| 久久国产精品老女人| 97精品国产97久久久久久免费| 人妻中文字幕乱人伦在线| 综合无码成人aⅴ视频在线观看 | 国产精品久久久久久久久久久久午夜片 | 免费精品国偷自产在线在线| 久久人人97超碰国产精品| 大白肥妇bbvbbw高潮| 国产成人人人97超碰超爽8| 午夜在线看的免费网站| 无遮18禁在线永久免费观看挡| 野外少妇愉情中文字幕| 国内精品伊人久久久久av| 亚洲成a人片在线观看天堂| 无码国产精品一区二区免费16| 我的公把我弄高潮了视频| 国内揄拍国内精品人妻浪潮av| 男人的天堂2018无码| 亚洲精品久久一区二区三区777| 无码人妻丰满熟妇区毛片| 西西艺术人像摄影| 欧美日韩精品一区二区三区高清视频 | 亚洲国产精品日本无码网站|