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

GAN Antibody

  • 中文名稱:
    GAN兔多克隆抗體
  • 貨號:
    CSB-PA009228GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    GAN
  • 別名:
    FLJ38059 antibody; GAN (gene name) antibody; GAN antibody; GAN_HUMAN antibody; GAN1 (gene name) antibody; Gigaxonin antibody; Kelch-like protein 16 antibody; KLHL16 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human GAN
  • 免疫原種屬:
    Homo sapiens (Human)
  • 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, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • 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:
    Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival.
  • 基因功能參考文獻:
    1. Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease PMID: 26492578
    2. We believe that molecular and functional investigation of gigaxonin mutations including the exon 8 polymorphism could lead to an improved understanding of the relationship between GAN and cancer PMID: 27023907
    3. A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2. PMID: 27852232
    4. a proteomic screen to identify the normal binding partners of GIG, is reported. PMID: 26460568
    5. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN. PMID: 25533284
    6. This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy. PMID: 24758703
    7. A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy. PMID: 23332420
    8. gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments PMID: 23585478
    9. No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia). PMID: 19782434
    10. Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. PMID: 16303566
    11. Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics. PMID: 17256086
    12. 3 new mutants were found in patients with giant axonal neuropathy: an intronic mutation near the splice donor site of intron 2 & a missense mutation in exon 3 (I182N), & 2 identical deletion alleles. PMID: 17331252
    13. Five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified. PMID: 17578852
    14. gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions PMID: 17587580
    15. a functional important part of the gigaxonin protein is altered by the AluYa5 insertion and causes giant axonal neuropathy [case report] PMID: 18595793
    16. Study shows that the gigaxonin E3 ligase subunit is normally expressed at a very low level and that various missense and nonsense mutations scattered across the entire GAN gene produce highly unstable protein products. PMID: 19168853

    顯示更多

    收起更多

  • 相關疾病:
    Giant axonal neuropathy 1, autosomal recessive (GAN1)
  • 亞細胞定位:
    Cytoplasm. Cytoplasm, cytoskeleton.
  • 組織特異性:
    Expressed in brain, heart and muscle.
  • 數據庫鏈接:

    HGNC: 4137

    OMIM: 256850

    KEGG: hsa:8139

    STRING: 9606.ENSP00000248272

    UniGene: Hs.112569



主站蜘蛛池模板: 成人性欧美丨区二区三区| 波多野结衣人妻| 少妇被粗大的猛烈进出视频| 亚洲a成人片在线观看| 亚洲欧美日韩在线码| 无码人妻精品一区二区三区免费 | 很色很爽很黄裸乳视频| 四虎国产精品永久免费网址| 国产av成人精品播放| 狠狠色丁香五月综合缴情婷婷五月| 亚洲无线码免费| 国产色爱av资源综合区| 人妻熟女αⅴ一区二区三区| 欧美又粗又长又爽做受| 色avav色av爱avav亚洲色拍| 色综合视频一区二区三区44| 国产精品揄拍100视频| 亚洲精品久久久久久一区二区| 亚洲天堂2017无码中文| 久久久国产精品va麻豆| 综合色就爱涩涩涩综合婷婷| 三级国产三级在线| 久久99热人妻偷产国产| 国产性猛交普通话对白| 最新网站亚洲人成无码| 中文字幕一区日韩精品| 日日碰狠狠躁久久躁| 山东熟女啪啪哦哦叫| 国产在线精品无码二区| 中文国产成人精品久久久| 午夜三级a三级三点在线观看| 亚欧免费无码aⅴ在线观看| 无码一区二区三区在线观看| 亚洲 欧美 另类 制服 日韩| 大战丰满无码人妻50p| 高级会所人妻互换94部分| 欧美xxxx狂喷水| 国产无遮挡a片又黄又爽漫画| 人妻熟女一区| 99热这里只就有精品22| 性av盈盈无码天堂|