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FAM20A Antibody

  • 货号：
    CSB-PA850394ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA850394ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human ovarian cancer using CSB-PA850394ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) FAM20A Polyclonal antibody
  • Uniprot No.：
    Q96MK3
  • 基因名：
    FAM20A
  • 别名：
    FAM20A antibody; UNQ9388/PRO34279Pseudokinase FAM20A antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Pseudokinase FAM20A protein (140-240AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 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, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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：
    Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals.
  • 基因功能参考文献：
    1. three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity. PMID: 28298625
    2. Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro. PMID: 25789606
    3. our findings support the suggestion that enamel-renal and AIGFSs are actually the same entity with different manifestations, associated with FAM20A mutations. PMID: 24259279
    4. the first duplication in FAM20A and the fifth independent mutation associated with gingival hyperplasia and dental anomalies, is reported. PMID: 23697977
    5. study identified 3 novel FAM20A mutations that caused autosomal-recessive amelogenesis imperfecta with delayed and arrested tooth eruption; conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis PMID: 24196488
    6. Data indicate that autosomal recessive FAM20A mutations causes nephrocalcinosis and amelogenesis imperfecta. PMID: 23434854
    7. we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes. PMID: 23468644
    8. Myocardial infarction is distinguished by the up-regulation of SOCS3 and FAM20A genes within first days in the vast majority of patients. PMID: 23185530
    9. Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A. PMID: 21990045
    10. We identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. PMID: 21549343
    11. A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) -- disorders of biomineralization resulting from failure of normal enamel formation. PMID: 21549343

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  • 相关疾病：
    Amelogenesis imperfecta 1G (AI1G)
  • 亚细胞定位：
    Secreted. Golgi apparatus. Endoplasmic reticulum.
  • 蛋白家族：
    FAM20 family
  • 组织特异性：
    Highly expressed in lung and liver. Intermediate levels in thymus and ovary.
  • 数据库链接：

    HGNC: 23015

    OMIM: 204690

    KEGG: hsa:54757

    STRING: 9606.ENSP00000468308

    UniGene: Hs.268874