在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

BTD Antibody

  • 中文名稱:
    BTD兔多克隆抗體
  • 貨號:
    CSB-PA002854GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    BTD
  • 別名:
    Biotinase antibody; Biotinidase antibody; Btd antibody; BTD_HUMAN antibody; EC 3.5.1.12 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human BTD
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

    顯示更多

    收起更多

  • 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



主站蜘蛛池模板: 国产午夜亚洲精品国产成人小说| 精品少妇人妻av无码久久| 风韵丰满熟妇啪啪区老老熟妇 | 欧美成人午夜免费全部完| 猫咪av成人永久网站在线观看| 国产清纯白嫩初高生在线观看| 免费无码一区二区三区蜜桃大| 天天做av天天爱天天爽| 国产在线看片无码人精品| 无码日韩精品一区二区三区免费| 丰满少妇熟乱xxxxx视频| 国产无套内射久久久国产| 亚洲欧洲成人av每日更新| 热99re久久精品天堂| 亚洲熟妇av综合网五月| 久久久久免费精品国产| 国产又粗又猛又大爽又黄| 人人妻人人澡人人爽国产一区| 免费人成网站在线观看欧美| 天堂а√中文在线| 亚洲综合成人av一区在线观看| 国产伦精品一区二区三区妓女| 国产精品露脸国语对白| 99久久无色码中文字幕| 久久精品香蕉绿巨人登场| 337p日本欧洲亚洲大胆精筑 | 亚洲乱亚洲乱妇50p| 国产日韩精品一区二区三区在线| 曰韩欧美群交p片内射| 久久综合九色欧美婷婷| 欧美精品人人做人人爱视频| 久久久国产打桩机| 狠狠人妻久久久久久综合| 免费观看在线a毛片| 成人特级毛片www免费版| 8888四色奇米在线观看| 欧美 国产 综合 欧美 视频| 无码超乳爆乳中文字幕久久| 久久人妻夜夜做天天爽| 久久人妻内射无码一区三区| 日韩精品无码一区二区三区视频|