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AAGAB Antibody

  • 货号：
    CSB-PA747468LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human spleen tissue using CSB-PA747468LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA747468LA01HU at dilution of 1:100
    • Immunofluorescent analysis of A549 cells using CSB-PA747468LA01HU 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) AAGAB Polyclonal antibody
  • Uniprot No.：
    Q6PD74
  • 基因名：
    AAGAB
  • 别名：
    AAGAB antibody; AAGAB_HUMAN antibody; Alpha and gamma adaptin binding protein p34 antibody; Alpha- and gamma-adaptin-binding protein p34 antibody; LOC79719 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Alpha- and gamma-adaptin-binding protein p34 protein (191-315AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，AAGAB Antibody (CSB-PA747468LA01HU)，的标记方式是Non-conjugated。对于AAGAB 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-PA747468LB01HU AAGAB Antibody, HRP conjugated ELISA
    FITC CSB-PA747468LC01HU AAGAB Antibody, FITC conjugated
    Biotin CSB-PA747468LD01HU AAGAB 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, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    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

  • 功能：
    May be involved in endocytic recycling of growth factor receptors such as EGFR.
  • 基因功能参考文献：
    1. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). PMID: 26608363
    2. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. PMID: 25771163
    3. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I. PMID: 24573067
    4. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma. PMID: 24588319
    5. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family. PMID: 24162853
    6. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. PMID: 24289292
    7. families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB PMID: 24390136
    8. Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees. PMID: 23448244
    9. analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry PMID: 23743648
    10. We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients. PMID: 23633024
    11. We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes. PMID: 23563198
    12. Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. PMID: 23000146
    13. We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation PMID: 23064416

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  • 相关疾病：
    Keratoderma, palmoplantar, punctate 1A (PPKP1A)
  • 亚细胞定位：
    Cytoplasm, cytosol.
  • 组织特异性：
    Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.
  • 数据库链接：

    HGNC: 25662

    OMIM: 148600

    KEGG: hsa:79719

    STRING: 9606.ENSP00000261880

    UniGene: Hs.254642