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Human Biotinidase(BTD) ELISA kit

  • 中文名稱:
    人生物素酰胺酶(BTD)酶聯免疫試劑盒
  • 貨號:
    CSB-EL002854HU
  • 規格:
    96T/48T
  • 價格:
    ¥3600/¥2500
  • 其他:

產品詳情

  • 產品描述:
    人生物素酰胺酶(BTD)酶聯免疫試劑盒(CSB-EL002854HU)為競爭法ELISA試劑盒,定量檢測血清、血漿、組織勻漿樣本中的BTD含量。BTD是一個重要靶點。它在細胞的生理過程中發揮著一定作用。當前研究主要聚焦其在相關信號通路中的作用機制,探尋與疾病發生發展的關聯,有望為開發針對BTD的靶向藥物、攻克相關疾病提供理論依據。試劑盒檢測范圍為0.41 ng/ml- 300 ng/ml,靈敏度為0.41 ng/ml。研究者可通過定量分析不同樣本中BTD的表達水平,應用于生物素代謝機制研究、遺傳性代謝疾病模型構建、營養干預效果評估等基礎研究場景,為探索BTD在細胞代謝調控中的作用提供可靠工具本品僅用于科研,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:
    Biotinase ELISA Kit; Biotinidase ELISA Kit; Btd ELISA Kit; BTD_HUMAN ELISA Kit; EC 3.5.1.12 ELISA Kit
  • 縮寫:
    BTD
  • Uniprot No.:
  • 種屬:
    Homo sapiens (Human)
  • 樣本類型:
    serum, plasma, tissue homogenates
  • 檢測范圍:
    0.41 ng/ml - 300 ng/ml
  • 靈敏度:
    0.41 ng/ml
  • 反應時間:
    1-5h
  • 樣本體積:
    50-100ul
  • 檢測波長:
    450 nm
  • 研究領域:
    Metabolism
  • 測定原理:
    quantitative
  • 測定方法:
    Competitive
  • 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 BTD in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.

     

    Sample

    Serum(n=4)

    1:1

    Average %

    99

    Range %

    92-106

    1:2

    Average %

    97

    Range %

    91-105

    1:4

    Average %

    96

    Range %

    89-103

    1:8

    Average %

    101

    Range %

    94-108

  • 回收率:

    The recovery of human BTD 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 Type

    Average % Recovery

    Range

    Serum (n=5)

    92

    86-98

    EDTA plasma (n=4)

    101

    94-108

  • 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/ml

    OD1

    OD2

    Average

    Corrected

    300

    2.746

    2.634

    2.690

    2.529

    100

    2.362

    2.267

    2.314

    2.154

    33.33

    1.652

    1.628

    1.640

    1.480

    11.11

    0.933

    0.929

    0.931

    0.770

    3.7

    0.663

    0.641

    0.652

    0.491

    1.23

    0.438

    0.453

    0.445

    0.285

    0.41

    0.259

    0.254

    0.256

    0.096

    0

    0.156

    0.165

    0.161

     

  • 數據處理:
  • 貨期:
    3-5 working days

產品評價

靶點詳情

  • 功能:
    Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
  • 基因功能參考文獻:
    1. BTD mutation is associated with biotinidase deficiency. PMID: 29995633
    2. Biotinidase deficiency is reviewed. PMID: 26577040
    3. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). PMID: 27378695
    4. The history and genetic basis of biotinidase deficiency has been presented. (Review) PMID: 26456103
    5. 48 novel alterations in the biotinidase gene have been identified; correlating the individual's serum enzymatic activity with genotype, were able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals PMID: 26810761
    6. The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population. PMID: 25754625
    7. Summary of the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey. PMID: 25423671
    8. Three novel pathogenic variants in BTD gene were identified in a cohort of Brazilian patients with biotinidase deficiency and control suggesting an allelic heteregeneity of the condition. PMID: 25174816
    9. Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children. PMID: 20224900
    10. High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary. PMID: 20549359
    11. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 in Biotinidase deficiency patients and families. PMID: 23481307
    12. Four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation PMID: 19757147
    13. Six different mutations in the biotinidase gene are identified in biotinidase in four Chinese patients; determination of biotinidase activities are performed for selective screening of biotinidase deficiency PMID: 19728141
    14. loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness. PMID: 22911723
    15. Plasma BTD activity increases in hepatic glycogen storage disease patients. PMID: 20532819
    16. 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported. PMID: 20556795
    17. Mutations in biotinidase is associated with biotinidase deficiency. PMID: 20539236
    18. 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. PMID: 19806568
    19. review of mutations causing biotinidase deficiency PMID: 11668630
    20. report of 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene PMID: 12359137
    21. analysis of mutations in biotinidase deficiency PMID: 15776412
    22. 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population. PMID: 17185019
    23. Posttranslational modification of histones by biotinylation can be catalyzed by biotinidase; role of this function is ambiguous. PMID: 18479898
    24. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage. PMID: 18645204

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  • 相關疾病:
    Biotinidase deficiency (BTD deficiency)
  • 亞細胞定位:
    Secreted, extracellular space.
  • 蛋白家族:
    Carbon-nitrogen hydrolase superfamily, BTD/VNN family
  • 數據庫鏈接:

    HGNC: 1122

    OMIM: 253260

    KEGG: hsa:686

    STRING: 9606.ENSP00000306477

    UniGene: Hs.444197



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