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VAX1 Antibody

  • 货号:
    CSB-PA025806GA01HU
  • 规格:
    ¥3,900
  • 其他:

产品详情

  • Uniprot No.:
    Q5SQQ9
  • 基因名:
    VAX1
  • 别名:
    VAX1 antibody; Ventral anterior homeobox 1 antibody
  • 宿主:
    Rabbit
  • 反应种属:
    Human,Mouse,Rat
  • 免疫原:
    Human VAX1
  • 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 0.1% 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
  • 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

  • 功能:
    Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk.
  • 基因功能参考文献:
    1. rs4752028 weakly associated with nonsyndromic cleft lip with or without cleft palate in northern Chinese Han population PMID: 28383424
    2. Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P). PMID: 23463464
    3. VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12, VCL, or CX43 PMID: 23679094
    4. The data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of nonsyndromic cleft lip with or without cleft palate. PMID: 23081944
    5. This is the first description of a patient with a VAX1 mutation and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia (A/M) in humans. PMID: 22095910

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  • 相关疾病:
    Microphthalmia, syndromic, 11 (MCOPS11)
  • 亚细胞定位:
    Nucleus.
  • 蛋白家族:
    EMX homeobox family
  • 数据库链接:

    HGNC: 12660

    OMIM: 604294

    KEGG: hsa:11023

    STRING: 9606.ENSP00000358207

    UniGene: Hs.441536