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GNAT2 Antibody

  • 货号：
    CSB-PA237874
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from COLO cells, using GNAT2 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GNAT2 Polyclonal antibody
  • Uniprot No.：
    P19087
  • 基因名：
    GNAT2
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from internal of Human GNAT2.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
  • 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：
    Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
  • 基因功能参考文献：
    1. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
    2. Single nucleotide polymorphisms in GNAT2 gene is associated with obesity. PMID: 23563607
    3. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
    4. Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha cascades and the activation of phosphodiesterase 6. PMID: 20603337
    5. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. PMID: 21107338
    6. mutations in GNAT2 are implicated in achromatopsia PMID: 12077706
    7. We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule, and therefore is not the disease causing mutation. PMID: 15094710

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  • 相关疾病：
    Achromatopsia 4 (ACHM4)
  • 亚细胞定位：
    Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.
  • 蛋白家族：
    G-alpha family, G(i/o/t/z) subfamily
  • 组织特异性：
    Retinal rod outer segment.
  • 数据库链接：

    HGNC: 4394

    OMIM: 139340

    KEGG: hsa:2780

    STRING: 9606.ENSP00000251337

    UniGene: Hs.36973