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: 午夜视频在线在免费| 国产成人精品三上悠亚| 3p人妻少妇对白精彩视频| 狠狠狠色丁香综合婷婷久久| 男人女人做爽爽18禁网站| 亚洲午夜久久久影院伊人| 丝袜老师办公室里做好紧好爽| 97久章草在线视频播放| 产精品视频在线观看免费| 窝窝午夜理论片影院| 一本色道久久综合狠狠躁| 亚洲人成77在线播放网站| 免费国产在线精品一区二区三区| 色135综合网| 超碰香蕉人人网99精品| 美国特级a毛片免费网站| 国产亚洲精品久久久久丝瓜| 国产成人无码免费看片软件| 成年无码动漫av片在线尤物| 亚洲精品久久av无码麻| 免费观看黄网站在线播放| 伊人蕉久中文字幕无码专区| 高大丰满欧美熟妇hd| a三级三级成人网站在线视频| 久久躁狠狠躁夜夜av| 亚洲日韩片无码中文字幕| 13小箩利洗澡无码视频网站| 国产精品久久久久9999| 国产偷国产偷亚洲清高| 久久午夜色播影院| 大地资源在线观看官网第三页| 亚洲精品成人无限看| 无码成人片在线播放| 色av专区无码影音先锋| 国产精品美女被遭强扒开双腿| 欧美成人综合久久精品| 先锋影音av最新资源| 精品无码国产一区二区三区麻豆| 人妻免费一区二区三区最新| 东京一本一道一二三区| 国产精品综合色区在线观看|