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PDE6B Antibody

  • 货号：
    CSB-PA2104ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) PDE6B Polyclonal antibody
  • Uniprot No.：
    P35913
  • 基因名：
    PDE6B
  • 别名：
    5''-cyclic phosphodiesterase subunit beta antibody; Congenital stationary night blindness 3 autosomal dominant antibody; CSNB 3 antibody; CSNB3 antibody; CSNBAD2 antibody; GMP PDE beta antibody; GMP-PDE beta antibody; PDE 6 beta antibody; PDE 6B antibody; PDE6B antibody; PDE6B_HUMAN antibody; PDEB antibody; Phosphodiesterase 6B antibody; Phosphodiesterase 6B cGMP specific rod beta antibody; Rd 1 antibody; Rd1 antibody; Rod cGMP phosphodiesterase beta subunit antibody; Rod cGMP specific 3' 5' cyclic phosphodiesterase beta subunit antibody; Rod cGMP-specific 3'' antibody; RP40 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Rod cGMP-specific 3\',5\'-cyclic phosphodiesterase subunit beta protein (1-190AA)
  • 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
  • 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：
    Necessary for the formation of a functional phosphodiesterase holoenzyme. Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock. May participate in processes of transmission and amplification of the visual signal.
  • 基因功能参考文献：
    1. Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. PMID: 25827439
    2. Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family. PMID: 24828262
    3. The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), and phosphodiesterase 6B, which causes nonsyndromic retinitis pigmentosa. PMID: 23882135
    4. The p.H557Y mutation in PDE6B, was homozygous in four patients and heterozygous in nine patients, and it was the most frequent mutation (2.5%) in Korean patients with retinitis pigmentosa. PMID: 23049240
    5. Data indicate the upregulation of RREB1, PDE6B, and CD209 suggests that these proteins might play important roles in the differentiation of primitive gut tube cells from embryonic stem cells (hESCs) and in primitive gut tube development into pancreas. PMID: 21792086
    6. Mutations have been identified in the beta-subunit of rod phosphodiesterase in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. PMID: 21655355
    7. Sp4 is a strong activator of transcription from the beta-PDE promoter PMID: 11943774
    8. the rod cGMP-phosphodiesterase beta-subunit gene is transcriptionally and post-transcriptionally regulated [review] PMID: 17249578
    9. Clinical and genetic characterization of a Chinese family with PDE6B is reported. PMID: 18188951
    10. PDE6B genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. PMID: 18854872
    11. These studies indicate that the 3' UTR of the PDEbeta mRNA is involved in the complex regulation of this gene's expression in the retina. PMID: 19218616

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  • 相关疾病：
    Retinitis pigmentosa 40 (RP40); Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2)
  • 亚细胞定位：
    Membrane; Lipid-anchor.
  • 蛋白家族：
    Cyclic nucleotide phosphodiesterase family
  • 数据库链接：

    HGNC: 8786

    OMIM: 163500

    KEGG: hsa:5158

    STRING: 9606.ENSP00000420295

    UniGene: Hs.623810