在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

Recombinant Human Fumarylacetoacetase (FAH)

  • 中文名稱:
    人FAH重組蛋白
  • 貨號:
    CSB-YP007965HU
  • 規格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    人FAH重組蛋白
  • 貨號:
    CSB-EP007965HU
  • 規格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    人FAH重組蛋白
  • 貨號:
    CSB-EP007965HU-B
  • 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FAH重組蛋白
  • 貨號:
    CSB-BP007965HU
  • 規格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    人FAH重組蛋白
  • 貨號:
    CSB-MP007965HU
  • 規格:
  • 來源:
    Mammalian cell
  • 其他:

產品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    FAH
  • Uniprot No.:
  • 別名:
    FAHFumarylacetoacetase; FAA; EC 3.7.1.2; Beta-diketonase; Fumarylacetoacetate hydrolase
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full Length of Mature Protein
  • 表達區域:
    2-419
  • 氨基酸序列
    SFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS
  • 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

  • 基因功能參考文獻:
    1. Altogether these findings elucidate the molecular basis of HT1 caused by the frequent FAH c.1062+5G>A mutation, and demonstrate the compensatory effect of the c.1061C>A change in promoting exon definition, thus unraveling a rare mechanism leading to FAH immune-reactive mosaicism. PMID: 29497141
    2. molecular aspects of the FAH gene and its corresponding protein and a complete listing of all the mutations identified to date; highlight of the importance of splicing mutations in hereditary tyrosinemia type 1 PMID: 28755182
    3. Results from whole exome sequencing revealed a novel homozygous missense variant in FAH causing tyrosinemia type I . This novel variant involves the catalytic pocket of the enzyme, but does not result in increased succinylacetone or tyrosine. PMID: 27397503
    4. FAH gene mutation is associated with tyrosinemia type 1. PMID: 26565546
    5. Four splicing mutations affecting exonic or intronic nucleotides of the FAH gene were identified in two hereditary tyrosinemia type I patients. PMID: 23895425
    6. Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH homozygous mutation. PMID: 24016420
    7. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. PMID: 22884142
    8. Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I. PMID: 22554029
    9. We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I PMID: 21764616
    10. A missense mutation in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. PMID: 11476670
    11. Data describe the metabolism of fumarylacetoacetate hydrolase mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from hereditary tyrosinemia type I patients. PMID: 15465000
    12. identification of an alternative nonsense transcript of the fah gene, which despite being subjected to nonsense-mediated mRNA decay, produces a protein in different human tissues PMID: 15638932
    13. An immunopositive liver nodule was found in a patient with tyrosinemia having a mosaic pattern of FAH. PMID: 15759101

    顯示更多

    收起更多

  • 相關疾病:
    Tyrosinemia 1 (TYRSN1)
  • 蛋白家族:
    FAH family
  • 組織特異性:
    Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
  • 數據庫鏈接:

    HGNC: 3579

    OMIM: 276700

    KEGG: hsa:2184

    STRING: 9606.ENSP00000261755

    UniGene: Hs.73875



主站蜘蛛池模板: 国产亚洲精品久久久久久| 成年女人永久免费看片| 2021最新国产精品网站| 无码一区二区三区久久精品| 真人与拘做受免费视频| 97人妻天天爽夜夜爽二区| 久久婷婷久久一区二区三区| 国产精品乱子伦xxxx| 夜夜揉揉日日人人| 精品午夜福利在线观看| 激情毛片无码专区| 五月婷婷激情第四季| 亚洲精品高清国产一久久| 国产亚洲欧美在线专区| 日韩视频在线观看| 国产美女爽到喷出水来视频| 肉体裸交137日本大胆摄影| 极品粉嫩嫩模大尺度无码视频| 少妇下蹲露大唇无遮挡| 国内精品久久久久影院蜜芽| 肉体裸交137日本大胆摄影| 欧洲精品久久久av无码电影| 国产精品香港三级国产av| 日韩人妻无码精品久久| 国产裸体xxxx视频| 欧美老熟妇乱子伦视频| 日韩人妻无码精品免费shipin| 熟妇玩小男视频在线| 国产精品天天看特色大片| 大桥久未无码吹潮在线观看| 久久青青草原国产免费播放| 无码午夜福利视频1000集| 欧美日韩一区二区三区在线观看视频| 脱岳裙子从后面挺进去在线观看 | 一本大道一卡2卡三卡4卡国产| 日本一丰满一bbw| 欧美丰满老熟妇aaaa片| 黄页网站视频| 2020年无码国产精品高清免费| 亚洲伊人成综合网| 久久精品国产99国产精品导航|