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  4. Recombinant Human Coiled-coil and C2 domain-containing protein 2A (CC2D2A), partial

Recombinant Human Coiled-coil and C2 domain-containing protein 2A (CC2D2A), partial

  • 中文名称：
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 货号：
    CSB-YP889186HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 货号：
    CSB-EP889186HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 货号：
    CSB-EP889186HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 货号：
    CSB-BP889186HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 货号：
    CSB-MP889186HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CC2D2A
  • Uniprot No.：
    Q9P2K1
  • 别名：
    C2D2A_HUMAN; CC2D2A; Coiled coil and C2 domain containing 2A; Coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.
  • 基因功能参考文献：
    1. Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in Saudi Arabian cohort. PMID: 26862157
    2. Using a dedicated bioinformatics algorithm for TE detection, we identified an exonic retrotransposon insertion of L1 to the CC2D2A locus in a patient with Meckel-Gruber syndrome, the most severe form of the ciliopathy phenotypes. PMID: 28374938
    3. these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. PMID: 26485645
    4. CC2D2A testing should be prioritised in patients with JS and ventriculomegaly and/or seizures. Patients with CC2D2A-related JS should be monitored for hydrocephalus and seizures. PMID: 22241855
    5. Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. PMID: 19574260
    6. Mutations within the CC2D2A gene are associated with Meckel and Joubert syndromes. PMID: 19777577
    7. A homozygous splice-site mutation segregating in the family with autosomal-recessive mental retardation, within a coiled-coil and C2 domain-containing gene, CC2D2A was identified. PMID: 18387594
    8. CC2D2A appears to have at least two cilia-related functions: the molecule seems to be a part of the basal body complex where the cilium is assembled from and also seems to act as a sensor for the intracellular calcium. PMID: 18513680
    9. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. PMID: 18950740
    10. CC2D2A causes autosomal-recessive mental retardation with retinitis pigmentosa. PMID: 19068953

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  • 相关疾病：
    Meckel syndrome 6 (MKS6); Joubert syndrome 9 (JBTS9); COACH syndrome (COACHS)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body.
  • 组织特异性：
    Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.
  • 数据库链接：

    HGNC: 29253

    OMIM: 216360

    KEGG: hsa:57545

    STRING: 9606.ENSP00000398391

    UniGene: Hs.590928

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