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  4. Recombinant Human Phosphorylase b kinase regulatory subunit alpha, liver isoform (PHKA2), partial

Recombinant Human Phosphorylase b kinase regulatory subunit alpha, liver isoform (PHKA2), partial

  • 中文名稱：
    人PHKA2重組蛋白
  • 貨號：
    CSB-YP017923HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人PHKA2重組蛋白
  • 貨號：
    CSB-EP017923HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人PHKA2重組蛋白
  • 貨號：
    CSB-EP017923HU-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PHKA2重組蛋白
  • 貨號：
    CSB-BP017923HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人PHKA2重組蛋白
  • 貨號：
    CSB-MP017923HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
  • Uniprot No.：
  • 別名：
    PHKA2; PHKLA; PYKPhosphorylase b kinase regulatory subunit alpha; liver isoform; Phosphorylase kinase alpha L subunit
  • 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：
    Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
  • 基因功能參考文獻：
    1. Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots. PMID: 28627441
    2. In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion. PMID: 27103379
    3. The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis. PMID: 21857251
    4. We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect PMID: 21911307
    5. two novel mutations found in two GSD type IX patients with different residual enzyme activities PMID: 21131218
    6. Gene analysis was confirmed to represent a useful procedure for diagnosing x-linked liver glycogenosis, for which liver biopsy had previously been required to detect hepatic phosphorylase kinase deficiency PMID: 12862311
    7. Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 is associated with X-linked liver glycogenosis PMID: 17581768
    8. Results show that phosphorylase kinase (PhK) alpha subunit missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha functions. PMID: 18950708

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  • 相關疾病：
    Glycogen storage disease 9A (GSD9A)
  • 亞細胞定位：
    Cell membrane; Lipid-anchor; Cytoplasmic side.
  • 蛋白家族：
    Phosphorylase b kinase regulatory chain family
  • 組織特異性：
    Predominantly expressed in liver and other non-muscle tissues.
  • 數據庫鏈接：

    HGNC: 8926

    OMIM: 300798

    KEGG: hsa:5256

    STRING: 9606.ENSP00000369274

    UniGene: Hs.54941



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