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GNAT1 Antibody

  • 货号：
    CSB-PA791645
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from COLO cells, using GNAT1 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GNAT1 Polyclonal antibody
  • Uniprot No.：
    P11488
  • 基因名：
    GNAT1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from internal of Human GNAT1.
  • 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：
    Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase.
  • 基因功能参考文献：
    1. Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this. PMID: 30051303
    2. These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously. PMID: 26472407
    3. Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma. PMID: 23292452
    4. These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness. PMID: 22190596
    5. Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues. PMID: 17222360

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  • 相关疾病：
    Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3); Night blindness, congenital stationary, 1G (CSNB1G)
  • 亚细胞定位：
    Cell projection, cilium, photoreceptor outer segment. Membrane; Peripheral membrane protein. Photoreceptor inner segment.
  • 蛋白家族：
    G-alpha family, G(i/o/t/z) subfamily
  • 组织特异性：
    Rod photoreceptor cells. Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium.
  • 数据库链接：

    HGNC: 4393

    OMIM: 139330

    KEGG: hsa:2779

    STRING: 9606.ENSP00000232461

    UniGene: Hs.517978