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  4. Human Protein FAM20A(FAM20A) ELISA kit

Human Protein FAM20A(FAM20A) ELISA kit

  • 中文名稱：
    人FAM20A蛋白(FAM20A)酶聯免疫試劑盒
  • 貨號：
    CSB-EL008172HU
  • 規格：
    96T/48T
  • 價格：
    ￥3600/￥2500
  • 其他：

產品詳情

  • 產品描述：
    人FAM20A蛋白(FAM20A)酶聯免疫試劑盒（CSB-EL008172HU）為雙抗夾心法ELISA試劑盒，定量檢測血清、血漿、組織勻漿樣本中的FAM20A含量。FAM20A是一種可能被分泌并可能在造血功能中發揮作用的蛋白質，其突變與釉質發育不全和牙齦增生綜合征有關。FAM20A在分泌蛋白的磷酸化過程中起著至關重要的作用，特別是那些細胞外結構域中含有絲氨酸（Ser）或蘇氨酸（Thr）殘基的蛋白。試劑盒檢測范圍為0.156 ng/mL-10 ng/mL，適用于細胞生物學、遺傳性疾病模型等領域的蛋白表達調控研究，可為探究FAM20A在礦化組織發育、病理性鈣化機制及遺傳性疾病分子通路中的功能提供可靠工具，滿足科研實驗的高通量檢測需求。本品僅用于科研，不用于臨床診斷，產品具體參數及操作步驟詳見產品說明書。
  • 別名：
    FAM20A ELISA kit; UNQ9388/PRO34279Pseudokinase FAM20A ELISA kit
  • 縮寫：
    FAM20A
  • Uniprot No.：
  • 種屬：
    Homo sapiens (Human)
  • 樣本類型：
    serum, plasma, tissue homogenates
  • 檢測范圍：
    0.156 ng/mL-10 ng/mL
  • 靈敏度：
    0.039 ng/mL
  • 反應時間：
    1-5h
  • 樣本體積：
    50-100ul
  • 檢測波長：
    450 nm
  • 研究領域：
    Signal Transduction
  • 測定原理：
    quantitative
  • 測定方法：
    Sandwich
  • 精密度：
    Intra-assay Precision (Precision within an assay): CV%<8%
    Three samples of known concentration were tested twenty times on one plate to assess.
    Inter-assay Precision (Precision between assays): CV%<10%
    Three samples of known concentration were tested in twenty assays to assess.
  • 線性度：
    To assess the linearity of the assay, samples were spiked with high concentrations of human FAM20A in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
    　SampleSerum(n=4)
    1:1Average %92
    Range %88-96
    1:2Average %87
    Range %82-91
    1:4Average %99
    Range %94-107
    1:8Average %90
    Range %85-97
  • 回收率：
    The recovery of human FAM20A spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
    Sample TypeAverage % RecoveryRange
    Serum (n=5) 8480-89
    EDTA plasma (n=4)10090-105
  • 標準曲線：
    These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
    ng/mlOD1OD2AverageCorrected
    102.578 2.472 2.525 2.432
    51.694 1.676 1.685 1.592
    2.51.093 1.063 1.078 0.985
    1.250.564 0.519 0.542 0.449
    0.6250.267 0.283 0.275 0.182
    0.3120.197 0.188 0.193 0.100
    0.1560.112 0.109 0.111 0.018
    00.096 0.089 0.093 　
  • 數據處理：
  • 貨期：
    3-5 working days

產品評價

靶點詳情

  • 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.
  • 基因功能參考文獻：
    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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  • 相關疾病：
    Amelogenesis imperfecta 1G (AI1G)
  • 亞細胞定位：
    Secreted. Golgi apparatus. Endoplasmic reticulum.
  • 蛋白家族：
    FAM20 family
  • 組織特異性：
    Highly expressed in lung and liver. Intermediate levels in thymus and ovary.
  • 數據庫鏈接：

    HGNC: 23015

    OMIM: 204690

    KEGG: hsa:54757

    STRING: 9606.ENSP00000468308

    UniGene: Hs.268874



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