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GAN Antibody

  • 货号：
    CSB-PA009228ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human breast cancer using CSB-PA009228ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA009228ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GAN Polyclonal antibody
  • Uniprot No.：
    Q9H2C0
  • 基因名：
    GAN
  • 别名：
    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
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Gigaxonin protein (1-240AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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

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  • 相关疾病：
    Giant axonal neuropathy 1, autosomal recessive (GAN1)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, cytoskeleton.
  • 组织特异性：
    Expressed in brain, heart and muscle.
  • 数据库链接：

    HGNC: 4137

    OMIM: 256850

    KEGG: hsa:8139

    STRING: 9606.ENSP00000248272

    UniGene: Hs.112569