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FAH Antibody

  • 货号：
    CSB-PA007965LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western Blot
      Positive WB detected in: Mouse kidney tissue, Mouse stomach tissue
      All lanes: FAH antibody at 3.4µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 47, 39 kDa
      Observed band size: 47 kDa
    • Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA007965LA01HU at dilution of 1:100
    • Immunofluorescent analysis of Hela cells using CSB-PA007965LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) FAH Polyclonal antibody
  • Uniprot No.：
    P16930
  • 基因名：
    FAH
  • 别名：
    FAHFumarylacetoacetase antibody; FAA antibody; EC 3.7.1.2 antibody; Beta-diketonase antibody; Fumarylacetoacetate hydrolase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human, Mouse
  • 免疫原：
    Recombinant Human Fumarylacetoacetase protein (2-250AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，FAH Antibody (CSB-PA007965LA01HU)，的标记方式是Non-conjugated。对于FAH Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA007965LB01HU FAH Antibody, HRP conjugated ELISA
    FITC CSB-PA007965LC01HU FAH Antibody, FITC conjugated
    Biotin CSB-PA007965LD01HU FAH Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:2000-1:5000
    IHC 1:20-1:200
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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