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GUCA1A Antibody

  • 货号：
    CSB-PA010044LA01HU
  • 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) GUCA1A Polyclonal antibody
  • Uniprot No.：
    P43080
  • 基因名：
    GUCA1A
  • 别名：
    GUCA1A antibody; C6orf131 antibody; GCAP antibody; GCAP1 antibody; GUCA1 antibody; Guanylyl cyclase-activating protein 1 antibody; GCAP 1 antibody; Guanylate cyclase activator 1A antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Guanylyl cyclase-activating protein 1 protein (2-201AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，GUCA1A Antibody (CSB-PA010044LA01HU)，的标记方式是Non-conjugated。对于GUCA1A Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA010044LB01HU GUCA1A Antibody, HRP conjugated ELISA
    FITC CSB-PA010044LC01HU GUCA1A Antibody, FITC conjugated
    Biotin CSB-PA010044LD01HU GUCA1A Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 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：
    Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure. May be involved in cone photoreceptor light response and recovery of response in bright light.
  • 基因功能参考文献：
    1. GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively). PMID: 28361875
    2. Allosteric communication pathways routed by Ca(2+)/Mg(2+) exchange in GCAP1 selectively switch target regulation modes. PMID: 27739433
    3. GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy. PMID: 28125083
    4. The two novel mutations described in this study are associated with distinct phenotypes, macular dystrophy for p.Val101del and cone dystrophy for p.Asp148Glu, with no intrafamilial phenotypic heterogeneity. PMID: 28442884
    5. GCAP1 mutation is associated with macular dystrophy. PMID: 28025326
    6. Retinal dystrophy-associated missense mutations (L84F, I107T) in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. PMID: 26358777
    7. Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface. PMID: 26100624
    8. The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1. PMID: 25616661
    9. GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A. PMID: 24875811
    10. RetGC1 activation by GCAP1 involves establishing a tight complex through the binding patch with an additional activation step involving Met-26, Lys-85, and Trp-94. PMID: 24567338
    11. All four mutant GCAP1 family members showed sensitivity or acuity losses relative to normal observers. PMID: 24557353
    12. we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the retinal degeneration due to c.250C>T and c.320T>C of the GUCA1A PMID: 24024198
    13. Patients with autosomal dominant cone-rod dystrophy caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG. PMID: 24352742
    14. the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. PMID: 23428504
    15. Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase activation up to 100-fold in HEK293 cell membranes. PMID: 21928830
    16. The consequences of specific mutations on GCAP1 structure and GC stimulation, are described. PMID: 20238026
    17. role in rescuing cone recovery kinetics in knockout mice PMID: 12732716
    18. The dynamic range for recombinant photoreceptor guanylyl cyclase-1 regulation by calcium (Ca2+)/GCAP1 is determined by both the affinity of GCAP1 for Ca2+ and relative affinities of the effector enzyme for the Ca2+-free versus Ca2+-loaded GCAP1. PMID: 15504042
    19. A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. PMID: 15505030
    20. A novel L151F missense mutation in the EF4 high affinity Ca2+ binding site of GCAP1 is linked to adCD (autosomal dominant cone dystrophy) in a large pedigree. PMID: 15735604
    21. A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with autosomal dominant cone-rod dystrophy (adCORD). PMID: 15790869
    22. This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. PMID: 15953638
    23. metal binding in EF-hand 2 is crucial for GCAP1 attachment to RetGC1, and in EF-hand 3 it is less critical, although it enhances the efficiency of the GCAP1 docking on the target enzyme PMID: 18541533
    24. all novel mutants of GCAP1 were able to act as a Ca2+-sensor protein, they differed in their Ca2+-dependent activation profiles leading to a persistent stimulation of guanylate cyclase activities at physiological intracellular Ca2+ concentration PMID: 19459154

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  • 相关疾病：
    Cone dystrophy 3 (COD3)
  • 亚细胞定位：
    Membrane; Lipid-anchor. Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment.
  • 组织特异性：
    In the retina, it is expressed in rod and cone photoreceptors.
  • 数据库链接：

    HGNC: 4678

    OMIM: 600364

    KEGG: hsa:2978

    STRING: 9606.ENSP00000053469

    UniGene: Hs.92858