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  4. Recombinant Human Voltage-dependent calcium channel subunit alpha-2/delta-1 (CACNA2D1), partial

Recombinant Human Voltage-dependent calcium channel subunit alpha-2/delta-1 (CACNA2D1), partial

In Stock
  • 货号：
    CSB-EP004407HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 别名：
    CA2D1_HUMAN; CACN A2; CACNA2; Cacna2d1; CACNL2A; Calcium channel L type alpha 2 polypeptide; Calcium channel voltage dependent alpha 2/delta subunit 1; CCHL2A; Dihydropyridine receptor alpha 2 subunit; Dihydropyridine sensitive L type calcium channel alpha 2/delta subunit; Dihydropyridine sensitive L type calcium channel subunits alpha 2/delta; L type calcium channel subunit alpha 2; MHS 3; MHS3; Voltage dependent calcium channel subunit alpha 2/delta 1; Voltage gated calcium channel subunit alpha 2/delta 1; Voltage-dependent calcium channel subunit delta-1; Voltage-gated calcium channel subunit alpha-2/delta-1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    32.3 kDa
  • 表达区域：
    528-668aa
  • 氨基酸序列
    QPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCN
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

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