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  4. Recombinant Human Galactokinase (GALK1)

Recombinant Human Galactokinase (GALK1)

  • 货号：
    CSB-YP009198HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP009198HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP009198HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP009198HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP009198HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    GALK1
  • Uniprot No.：
  • 别名：
    EC 2.7.1.6; epididymis secretory protein Li 19; Galactokinase 1; Galactokinase; Galactose kinase; GALK 1; GALK; GALK1; GALK1_HUMAN; GK1; GLK; GLK1; HEL-S-19
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-392
  • 氨基酸序列
    MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

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