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HGD Antibody

  • 中文名称：
    HGD兔多克隆抗体
  • 货号：
    CSB-PA010326GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q93099
  • 基因名：
    HGD
  • 别名：
    2-dioxygenase antibody; AKU antibody; FLJ94126 antibody; hgd antibody; HGD_HUMAN antibody; HGO antibody; Homogentisate 1 2 dioxygenase antibody; Homogentisate 1 antibody; Homogentisate oxidase antibody; Homogentisate oxygenase antibody; Homogentisic acid oxidase antibody; Homogentisicase antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human HGD
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 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. Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones. PMID: 25804398
    2. A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population. PMID: 24575791
    3. study described two novel HGD mutations in a Chinese alkaptonuria family, the splicing mutation of IVS7 1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12 PMID: 23353776
    4. Report mutations of the HGD gene in Jordanian alkaptonuria patients. PMID: 21437689
    5. The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme PMID: 22105303
    6. An update on molecular genetics of Alkaptonuria (AKU).(review) PMID: 21720873
    7. Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family. PMID: 20462779
    8. A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported. PMID: 19862842
    9. Turkish mutation shares an homogentisate 1,2-dioxygenase haplotype with the mutation found in Finland, Slovakia and India, suggesting that R58fs is an old alkaptonuria mutation that probably originated in central Asia PMID: 12872836
    10. Four different mutations of the HGD gene were found in alkaptonuria and ochronotic arthropathy diagnoses. PMID: 16085442
    11. A single nucleotide deletion located in exon 3 resulted in a frameshift mutation in HGD gene in family with alkaptonuria. PMID: 18945288

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  • 相关疾病：
    Alkaptonuria (AKU)
  • 蛋白家族：
    Homogentisate dioxygenase family
  • 组织特异性：
    Highest expression in the prostate, small intestine, colon, kidney and liver.
  • 数据库链接：

    HGNC: 4892

    OMIM: 203500

    KEGG: hsa:3081

    STRING: 9606.ENSP00000283871

    UniGene: Hs.368254