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PHKA2 Antibody

  • 货号：
    CSB-PA572789
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human prostate cancer tissue using CSB-PA572789(PHKA2 Antibody) at dilution 1/30, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA572789(PHKA2 Antibody) at dilution 1/30, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    P46019
  • 基因名：
  • 别名：
    PHKA2 antibody; PHKLA antibody; PYKPhosphorylase b kinase regulatory subunit alpha antibody; liver isoform antibody; Phosphorylase kinase alpha L subunit antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthetic peptide of Human PHKA2
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:1000-1:2000
    IHC 1:25-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Glycogen storage disease 9A (GSD9A)
  • 亚细胞定位：
    Cell membrane; Lipid-anchor; Cytoplasmic side.
  • 蛋白家族：
    Phosphorylase b kinase regulatory chain family
  • 组织特异性：
    Predominantly expressed in liver and other non-muscle tissues.
  • 数据库链接：

    HGNC: 8926

    OMIM: 300798

    KEGG: hsa:5256

    STRING: 9606.ENSP00000369274

    UniGene: Hs.54941