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

AAAS Antibody

  • 中文名稱:
    AAAS兔多克隆抗體
  • 貨號:
    CSB-PA211579
  • 規格:
    ¥1100
  • 圖片:
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA211579(AAAS Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA211579(AAAS Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
    • Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane 1-3: 293T cells, hela cells, PC3 cells, Primary antibody: CSB-PA211579(AAAS Antibody) at dilution 1/400, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    AAAS
  • 別名:
    AAAS antibody; ADRACALA antibody; GL003Aladin antibody; Adracalin antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse
  • 免疫原:
    Fusion protein of Human AAAS
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen affinity purification
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    WB 1:200-1:1000
    IHC 1:50-1:200
  • 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:
    Plays a role in the normal development of the peripheral and central nervous system. Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment.
  • 基因功能參考文獻:
    1. Mutation in AAAS gene is associated with triple A syndrome. PMID: 29874194
    2. Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described. PMID: 29255950
    3. Nine different AAAS mutations were found, including one new mutation: c.755G>C, p.(Trp252Ser) in a French cohort of Triple A syndrome patients. PMID: 29237697
    4. This study demonstrated that a single splicing mutation affects the AAAS transcripts and consequently the ALADIN protein structure and function. PMID: 27414811
    5. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. PMID: 25781531
    6. down-regulating ALADIN results in decreased oxidative stress response leading to alteration in steroidogenesis, highlighting our knock-down cell model as an important in-vitro tool for studying the adrenal phenotype in triple A syndrome PMID: 25867024
    7. Data suggest ALADIN is involved in resistance to oxidative stress in adrenocortical cells/neurons; ALADIN knockdown down-regulates StAR (steroidogenic acute regulatory protein) and P45011beta (cytochrome P450 family 11 subfamily B polypeptide 1). PMID: 23825130
    8. The compromising c.43C>A mutation is predicted to cause a p.Gln15Lys amino acid substitution in the ALADIN protein. PMID: 23073554
    9. identification of two novel mutations in the AAAS gene associated with achalasia adrenocortical insufficiency alacrimia syndrome PMID: 21565631
    10. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings triple A syndrome. PMID: 20931227
    11. In all children with mutation in AAAS gene, regular follow up of adrenal function is necessary to avoid adrenal crisis and start substitution therapy as soon as adrenal insufficiency is noted. PMID: 20499090
    12. Study broadened the allelic and phenotypic spectrum of Allgrove syndrome due to AAAS mutations; the recurrence of the Leu469Pro mutation highlights a possible major role for this alteration in the Italian population. PMID: 20447142
    13. ALADIN interact with FTH1 and FTH1 nuclear translocation is enhanced when ALADIN is coexpressed. PMID: 19855093
    14. a homozygous G -->A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function PMID: 11815731
    15. plays a cell type-specific role in regulating nucleocytoplasmic transport and that this function is essential for the proper maintenance andor development of certain tissues; NPC targeting is essential for the function of ALADIN PMID: 12730363
    16. myoclonus and generalized digestive dysmotility in triple a syndrome is connected to AAAS gene mutation PMID: 15022193
    17. In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction. PMID: 15217518
    18. Further studies have to investigate the role of ALADIN at NPCs and to identify interacting proteins. Functional analyses of ALADIN may permit further understanding of its role for adrenocortical function and neurodevelopment. PMID: 15666842
    19. Widespread but not ubiquitous or uniform expression of AAAS mRNA in the developing rat embryo. PMID: 15680696
    20. Data do not support a pathogenetic role for common AAAS gene mutations in patients with idiopathic achalasia as seen in Allgrove syndrome. PMID: 15843079
    21. novel splice variant AAAS-v2 encodes a 513-amino acid polypeptide, which contains three WD40 domains; AAAS-v2 and AAAS-v1 were ubiquitously detected in human tissues PMID: 16022285
    22. 3 subjects with classic AAAS did not have mutations in AAAS gene on both alleles. This supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded. PMID: 16098009
    23. The mutation of the AAAS gene is a novel mutation and this case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene. PMID: 16543750
    24. With transfection experiments, we analyzed the cellular localization of the wild-type and 17 natural mutant variants (9 missense, 5 nonsense, 3 frameshift mutations) of ALADIN. PMID: 16609705
    25. novel homozygous mutation within intron 5 (IVS5+1G-->A) illustrates the heterogenous nature and the intrafamilial phenotypic variability of Allgrove syndrome PMID: 16938764
    26. Report a case of adult onset Allgrove syndrome had no mutation in the ALADIN gene on chromosome 12q13. PMID: 18175081
    27. The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency. PMID: 19011813
    28. AAAS gene analysis demonstrated a homozygous A to G mutation at nucleotide position 122 in exon 1 in DNA from the patient. PMID: 19172511
    29. The study shows that ALADIN is a protein with a molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. ALADIN is localized in the nuclear membrane. PMID: 19322026
    30. NDC1-mediated localization of ALADIN to nuclear pore complexes is essential for selective nuclear protein import; abrogation of the interaction between ALADIN and NDC1 may be important for the development of triple-A syndrome. PMID: 19703420
    31. ALADIN is anchored in the nuclear envelope via NDC1 and that this interaction gets lost, if ALADIN is mutated. PMID: 19782045

    顯示更多

    收起更多

  • 相關疾病:
    Achalasia-addisonianism-alacrima syndrome (AAAS)
  • 亞細胞定位:
    Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Nucleus envelope.
  • 組織特異性:
    Widely expressed. Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.
  • 數據庫鏈接:

    HGNC: 13666

    OMIM: 231550

    KEGG: hsa:8086

    STRING: 9606.ENSP00000209873

    UniGene: Hs.369144



主站蜘蛛池模板: 乱色精品无码一区二区国产盗| 亚洲国产码专区| 乌克兰少妇xxxx做受| 久久这里只有精品18| 亚洲国产精品无码久久一线 | 丁香五月综合久久激情| 国产精品久久久天天影视香蕉| 精品人人妻人人澡人人爽牛牛| 夜夜躁狠狠躁2021| 忘忧草日本在线播放www| 亚洲精品无码专区在线播放| 欧美人与性动交ccoo| 国产成人av免费观看| 18禁男女污污污午夜网站免费暖暖| 久久国产亚洲精品无码| 日本va欧美va精品发布| 国产欧美日韩国产高清| 亚洲va在线va天堂va欧美va| 亚洲国产一区二区a毛片| 凸凹人妻人人澡人人添| 国产精品99久久免费| 亚洲伊人情人综合网站| 国产成人无码av一区二区在线观看| 久久久久久a亚洲欧洲av| 精品午夜国产福利观看| 无码专区无码专区视频网址| 欧洲吸奶大片在线看| 日韩人妻熟女中文字幕aⅴ春菜| 日本久久综合久久鬼色| 久久天天躁狠狠躁夜夜2020一| 久久综合久久鬼色| 在线观看免费人成视频网| 欧美日韩亚洲国产欧美电影| 国产一区二区精品丝袜| 亚洲日产av中文字幕无码偷拍| 欧美老妇疯狂xxxxbbbb| 一本无码久本草在线中文字幕dvd 337p日本欧洲亚洲大胆裸体艺术 国产av一区二区三区 | 亚洲一区二区三区av天堂| 男人下部进女人下部视频| 影音先锋人妻每日资源站| 国产欧美日韩精品丝袜高跟鞋|