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  4. Recombinant Human Cadherin-related family member 1 (CDHR1), partial

Recombinant Human Cadherin-related family member 1 (CDHR1), partial

  • 中文名稱：
    Recombinant Human Cadherin-related family member 1(CDHR1),partial
  • 貨號：
    CSB-YP856961HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Cadherin-related family member 1(CDHR1),partial
  • 貨號：
    CSB-EP856961HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Cadherin-related family member 1(CDHR1),partial
  • 貨號：
    CSB-EP856961HU-B
  • 說明書：
  • 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 Cadherin-related family member 1(CDHR1),partial
  • 貨號：
    CSB-BP856961HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Cadherin-related family member 1(CDHR1),partial
  • 貨號：
    CSB-MP856961HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    CDHR1
  • Uniprot No.：
  • 別名：
    Cadherin-related family member 1; CDHR1; CDHR1_HUMAN; CORD15; DKFZp434A132; KIAA1775; MT protocadherin; PCDH 21; PCDH21; PCDH21 protein; Photoreceptor cadherin; prCAD; Protocadherin-21; RP65
  • 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：
    Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells.
  • 基因功能參考文獻：
    1. CDHR1-related retinal dystrophy should be considered in adult patients with a retinal dystrophy who present with symptoms of cone-and-rod dysfunction and macular atrophy on ophthalmoscopic examination. PMID: 28885867
    2. the recessive retinal disorder previously reported to be due to homozygous mutation in RGR is, at least in part, due to variants in CDHR1 and that the true consequences of RGR knock-out on human retinal structure and function are yet to be determined. PMID: 27623334
    3. we delineate the retinal pathology of two families segregating autosomal recessive retinal dystrophy due to two previously undescribed mutations in CDHR1. PMID: 26350383
    4. Lack of CDHR1 in the human retina causes symptoms related to cone photoreceptor dysfunction. PMID: 24265541
    5. A novel splice site mutation of CDHR1, c.1485+2T>G, underlying autosomal recessive cone-rod dystrophy has been described in a consanguineous Israeli Christian Arab family. PMID: 23233793
    6. High-resolution retinal imaging revealed outer retinal changes suggesting that CDHR1 is important for normal photoreceptor structure and survival. PMID: 23044944
    7. To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease, autosomal recessive cone-rod dystrophy. PMID: 20805371
    8. Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans. PMID: 20087419
    9. PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined. PMID: 16288196

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  • 相關疾病：
    Cone-rod dystrophy 15 (CORD15)
  • 亞細胞定位：
    Cell membrane; Single-pass membrane protein.
  • 數據庫鏈接：

    HGNC: 14550

    OMIM: 609502

    KEGG: hsa:92211

    STRING: 9606.ENSP00000361189

    UniGene: Hs.137556



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