在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

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

  • 中文名稱:
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 貨號:
    CSB-YP889186HU
  • 規格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 貨號:
    CSB-EP889186HU
  • 規格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 貨號:
    CSB-EP889186HU-B
  • 規格:
  • 來源:
    E.coli
  • 共軛:
    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:
  • 中文名稱:
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 貨號:
    CSB-BP889186HU
  • 規格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    Recombinant Human Coiled-coil and C2 domain-containing protein 2A(CC2D2A) ,partial
  • 貨號:
    CSB-MP889186HU
  • 規格:
  • 來源:
    Mammalian cell
  • 其他:

產品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    CC2D2A
  • Uniprot No.:
  • 別名:
    C2D2A_HUMAN; CC2D2A; Coiled coil and C2 domain containing 2A; Coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Partial
  • 蛋白標簽:
    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.
  • 產品提供形式:
    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.
  • 復溶:
    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.
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期:
    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.
  • 貨期:
    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.
  • 注意事項:
    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.

產品評價

靶點詳情

  • 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.
  • 基因功能參考文獻:
    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

    顯示更多

    收起更多

  • 相關疾病:
    Meckel syndrome 6 (MKS6); Joubert syndrome 9 (JBTS9); COACH syndrome (COACHS)
  • 亞細胞定位:
    Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body.
  • 組織特異性:
    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.
  • 數據庫鏈接:

    HGNC: 29253

    OMIM: 216360

    KEGG: hsa:57545

    STRING: 9606.ENSP00000398391

    UniGene: Hs.590928



主站蜘蛛池模板: 亚洲精品无码一区二区| 婷婷色怡春院| 亚洲色爱图小说专区| 无码日韩精品一区二区人妻| 日本亲与子乱人妻hd| 免费看国产精品3a黄的视频| 亚洲区激情区无码区日韩区| 香港aa三级久久三级| 四房播播开心五月| 黄网站成人片免费视频| 亚洲午夜未满十八勿入| 日本少妇高潮喷水xxxxxxx| 国产激情综合五月久久| 手机看黄av免费网址| 暴力强奷在线播放无码| 亚洲a∨国产av综合av下载| 国产拍拍拍无码视频免费| 国产av福利久久| 夜夜高潮夜夜爽夜夜爱爱一区| 国产97在线 | 亚洲| 特级a做爰全过程片| 四虎永久在线精品8848a| 国精产品一品二品国精在线观看 | 成熟妇女性成熟满足视频| 任你躁x7x7x7x7在线观看| 精品国产成人一区二区三区| 亚洲一区二区三区含羞草| 国产精品久久久久久人妻精品 | 久久无码人妻精品一区二区三区| 亚洲人成网站日本片| 国产精品55夜色66夜色| 手机福利视频| 国产内射999视频一区| 国产午夜免费高清久久影院 | 亚洲国产精品成人久久| 黑色丝袜脚足国产在线看| 熟女乱牛牛视频在线观看| 无码人妻精品一区二区蜜桃色欲| 亚洲精品字幕| 又爽又黄无遮挡高潮视频网站| 亚洲国产精品久久久久久无码|