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  4. Recombinant Human Patched domain-containing protein 1 (PTCHD1), partial

Recombinant Human Patched domain-containing protein 1 (PTCHD1), partial

  • 中文名稱：
    人PTCHD1重組蛋白
  • 貨號：
    CSB-YP839383HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人PTCHD1重組蛋白
  • 貨號：
    CSB-EP839383HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人PTCHD1重組蛋白
  • 貨號：
    CSB-EP839383HU-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：
    人PTCHD1重組蛋白
  • 貨號：
    CSB-BP839383HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人PTCHD1重組蛋白
  • 貨號：
    CSB-MP839383HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    PTCHD1
  • Uniprot No.：
  • 別名：
    9630036J22Rik; AI848149; FLJ30296; Gm387; MGC149798; Patched domain containing 1; Patched domain-containing protein 1; PTCHD1; PTHD1_HUMAN; RGD1564527; RP23-152D15.3
  • 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 Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
    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：
    Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention.
  • 基因功能參考文獻：
    1. both common and rare PTCHD1 variants contribute to autism spectrum disorder. PMID: 25782667
    2. Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors. PMID: 25131214
    3. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. PMID: 21091464
    4. Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability. PMID: 20844286
  • 相關疾病：
    Autism, X-linked 4 (AUTSX4)
  • 亞細胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Patched family
  • 組織特異性：
    Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.
  • 數據庫鏈接：

    HGNC: 26392

    OMIM: 300828

    KEGG: hsa:139411

    STRING: 9606.ENSP00000368666

    UniGene: Hs.319503



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