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CACNA2D1 Antibody

  • 货号：
    CSB-PA060124
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    P54289
  • 基因名：
  • 别名：
    CA2D1_HUMAN antibody; CACN A2 antibody; CACNA2 antibody; Cacna2d1 antibody; CACNL2A antibody; Calcium channel L type alpha 2 polypeptide antibody; Calcium channel voltage dependent alpha 2/delta subunit 1 antibody; CCHL2A antibody; Dihydropyridine receptor alpha 2 subunit antibody; Dihydropyridine sensitive L type calcium channel alpha 2/delta subunit antibody; Dihydropyridine sensitive L type calcium channel subunits alpha 2/delta antibody; L type calcium channel subunit alpha 2 antibody; MHS 3 antibody; MHS3 antibody; Voltage dependent calcium channel subunit alpha 2/delta 1 antibody; Voltage gated calcium channel subunit alpha 2/delta 1 antibody; Voltage-dependent calcium channel subunit delta-1 antibody; Voltage-gated calcium channel subunit alpha-2/delta-1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human Cacna2d1.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 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.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:10000
  • 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：
    The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.
  • 基因功能参考文献：
    1. Using human genome-wide association study (GWAS) data, evidence for association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma is found. PMID: 29176626
    2. we report an additional patient with the 7q21.11 deletion syndrome and provide evidence that haploinsufficiency for a single gene may not be the disease mechanism. In vitro studies of the interaction between PCLO and CACNA2D1 will be required to examine the hypothesis that combined haploinsufficiency for these two synaptic proteins results in neuronal dysfunction PMID: 28240412
    3. All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features. PMID: 25074461
    4. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. PMID: 24438356
    5. High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data. PMID: 23414114
    6. Functional expression of CACNA2D1 is inhibited by prion protein expression with competition at glycosylphosphatidylinositol. PMID: 24329154
    7. this study reports the identification and characterization of the human alpha2delta-1 subunit gene promoter region and its regulation by specific transcription factor 1. PMID: 23242029
    8. (Review) In neurons, alpha2delta1 subunits are present mainly in presynaptic terminals; peripheral sensory nerve injury results in up-regulation of alpha2delta1 in dorsal root ganglion neurons, and there is consequent increase in trafficking of alpha2delta1 to their terminals. PMID: 20579869
    9. In neocortical slices from transgenic mice having a point mutation (i.e., R217A) of the alpha2delta-1 subunit of voltage-sensitive calcium channels, pregabalin does not affect potassium-evoked glutamate release, yet inhibits this release in wild-type mice. PMID: 21464332
    10. Results show that mutation of CACNA2D1 gene causes a new varant of SCTS. PMID: 21383000
    11. CACNA2D1 is a novel Brugada Syndrome susceptibility gene. PMID: 20817017
    12. CACNA2D1 has structural domains which contribute to the regulation of N-type calcium channel inactivation PMID: 14602720
    13. Timothy syndrome is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2). PMID: 19001023

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  • 亚细胞定位：
    Membrane; Single-pass type I membrane protein.
  • 蛋白家族：
    Calcium channel subunit alpha-2/delta family
  • 组织特异性：
    Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.
  • 数据库链接：

    HGNC: 1399

    OMIM: 114204

    KEGG: hsa:781

    STRING: 9606.ENSP00000349320

    UniGene: Hs.282151