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  4. Recombinant Human Phenylalanine--tRNA ligase, mitochondrial (FARS2)

Recombinant Human Phenylalanine--tRNA ligase, mitochondrial (FARS2)

  • 中文名稱：
    人FARS2重組蛋白
  • 貨號：
    CSB-YP008429HU
  • 說明書：
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人FARS2重組蛋白
  • 貨號：
    CSB-EP008429HU
  • 說明書：
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人FARS2重組蛋白
  • 貨號：
    CSB-EP008429HU-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FARS2重組蛋白
  • 貨號：
    CSB-BP008429HU
  • 說明書：
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人FARS2重組蛋白
  • 貨號：
    CSB-MP008429HU
  • 說明書：
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    FARS2
  • Uniprot No.：
  • 別名：
    dJ236A3.1 (phenylalanine tRNA synthetase) ; dJ520B18.2 (FARS1 (phenylalanine tRNA synthetase)) ; FARS1 ; Fars2; HSPC320; Phenylalanine translase; Phenylalanine tRNA ligase 2; mitochondrial ; Phenylalanine tRNA ligase; Phenylalanine tRNA synthetase 1 (mitochondrial); Phenylalanine tRNA synthetase 2 (mitochondrial) ; Phenylalanine--tRNA ligase; Phenylalanyl tRNA synthetase 2; Phenylalanyl-tRNA synthetase; mitochondrial; PheRS; SYFM_HUMAN
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 表達區域：
    -
  • 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：
    Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.
  • 基因功能參考文獻：
    1. Based on the phenotypic data of previously reported subjects and the two subjects reported here, we conclude that FARS2 deficiency can be associated with two phenotypes: (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. PMID: 29126765
    2. in patients with drug-resistant infantile spasm syndrome, associated with focal seizures, mild metabolic changes, and cerebral atrophy with volume loss of white matter on MRI, mutations in FARS2 should be considered. PMID: 27549011
    3. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2 have been described. PMID: 28419689
    4. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. PMID: 26553276
    5. this study expands the phenotypic spectrum of FARS2 related disease and emphasizes intragenic deletion in the list of causative mutations. PMID: 25851414
    6. the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity. PMID: 22833457
    7. Two phenylalanyl-tRNA synthetase variants Ser57Cys and Asp280Ser both display wild-type aminoacylation activity and stability with respect to their free energies of unfolding, but are less stable at low hydrogen-ion concentration (pH). PMID: 21601574
    8. The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP. PMID: 17768348
    9. Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding. PMID: 18611382
    10. Mitochondrial and cytoplasmic phenylalanyl-tRNA synthetases (HsmtPheRS and HsctPheRS, respectively) catalyze direct attachment of m-Tyr to tRNA(Phe). PMID: 19549855
    11. these results indicate that conformational flexibility of the two functional modules in mtPheRS is essential for its phenylalanylation activity. PMID: 19737557

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  • 相關疾病：
    Combined oxidative phosphorylation deficiency 14 (COXPD14); Spastic paraplegia 77, autosomal recessive (SPG77)
  • 亞細胞定位：
    Mitochondrion matrix. Mitochondrion.
  • 蛋白家族：
    Class-II aminoacyl-tRNA synthetase family
  • 數據庫鏈接：

    HGNC: 21062

    OMIM: 611592

    KEGG: hsa:10667

    STRING: 9606.ENSP00000274680

    UniGene: Hs.484547



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