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  4. Recombinant Human Fumarylacetoacetase (FAH)

Recombinant Human Fumarylacetoacetase (FAH)

  • 货号：
    CSB-YP007965HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP007965HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP007965HU-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-BP007965HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP007965HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    FAH
  • Uniprot No.：
  • 别名：
    FAHFumarylacetoacetase; FAA; EC 3.7.1.2; Beta-diketonase; Fumarylacetoacetate hydrolase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    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

  • 基因功能参考文献：
    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

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  • 相关疾病：
    Tyrosinemia 1 (TYRSN1)
  • 蛋白家族：
    FAH family
  • 组织特异性：
    Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
  • 数据库链接：

    HGNC: 3579

    OMIM: 276700

    KEGG: hsa:2184

    STRING: 9606.ENSP00000261755

    UniGene: Hs.73875