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GALK1 Antibody

  • 货号：
    CSB-PA590136
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from HUVEC cells and HeLa cells, using GALK1 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) GALK1 Polyclonal antibody
  • Uniprot No.：
    P51570
  • 基因名：
    GALK1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from N-terminal of Human GALK1.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
  • 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：
    Major enzyme for galactose metabolism.
  • 基因功能参考文献：
    1. Mutation in the GALK gene is associated with mental disorders in galactosemia. PMID: 28672748
    2. The GALK1 gene was included in this interval and direct sequencing. PMID: 24211322
    3. Data indicate taht the interactions between galactokinase (GALK) and its potential inhibitors by molecular dynamics simulations. PMID: 23517731
    4. The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. PMID: 22632133
    5. A possible mechanism for the unfolding caused by the Pro(28)Thr point mutation of human galactokinase. PMID: 21264483
    6. Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families, are reported. PMID: 20405025
    7. 2 new GALK1 mutations near the ATP-binding site were found in a homozygotic Turkish immigrant: S142I and G148C. PMID: 11978883
    8. a functional analysis of disease-causing mutations in this enzyme PMID: 12694189
    9. In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. PMID: 12942049
    10. structure and function of galactokinase, and role in type II galactosemia [review] PMID: 15526155
    11. active site geometry of this enzyme upon which to more fully understand the consequences of the those mutations known to give rise to Type II galactosemia. PMID: 15590630
    12. Mutations in GALK1 resulted in reduction of GALK activity and caused GALK deficiency. PMID: 17517531
    13. These results suggest that the elevated GALK1 activity resulted from enhanced gene expression, due to nucleotide variation within GALK1 promoter PMID: 19309526
    14. Structure of the human enzyme complexed with MgAMP.PNP and galactose PMID: 15590630
    15. The disease-causing point mutations in the human enzyme are mapped onto the structure of the protein from Pyrococcus furiosus and speculations made about the structural consequences. PMID: 15003454
    16. 2-deoxy-D-galactose is a substrate for this enzyme. D-glucose, D-fucose, L-arabinose and N-acetyl-D-galactosamine are not. Mutations H44A, H44I, E43G/H44I are insoluble, D46A is inactive, E43G has reduced activity and E43A has wild-type activity. PMID: 14596685
    17. Has ordered ternary complex mechanism with ATP being the first substrate to bind. PMID: 12694189

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  • 相关疾病：
    Galactosemia II (GALCT2)
  • 蛋白家族：
    GHMP kinase family, GalK subfamily
  • 数据库链接：

    HGNC: 4118

    OMIM: 230200

    KEGG: hsa:2584

    STRING: 9606.ENSP00000225614

    UniGene: Hs.407966