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

SLC19A3 Antibody, Biotin conjugated

  • 中文名稱:
    SLC19A3兔多克隆抗體, Biotin偶聯
  • 貨號:
    CSB-PA866333LD01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) SLC19A3 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    SLC19A3
  • 別名:
    SLC19A3Thiamine transporter 2 antibody; ThTr-2 antibody; ThTr2 antibody; Solute carrier family 19 member 3 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Thiamine transporter 2 protein (191-282AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Biotin
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • 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:
    Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.
  • 基因功能參考文獻:
    1. two siblings who received a refined diagnosis of BTBGD following whole-genome sequencing. Both children inherited compound heterozygous mutations from unaffected parents; a missense single-nucleotide variant (p.G23V) in the first transmembrane domain of the protein, and a 4808-bp deletion in exon 1 encompassing the 5' UTR and minimal promoter region. PMID: 28696212
    2. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals. The disease is thus more frequent than previously recognized PMID: 28402605
    3. Genetic variations in SLC19A3 play an important role in the pathogenesis of severe diabetic retinopathy and nephropathy and may explain why some individuals with type 1 diabetes are less prone than others to develop microvascular complications. PMID: 26718501
    4. Genetic screening of SLC19A3 mutation is crucial to diagnosis autosomal recessive biotin-thiamine-responsive basal ganglia disease in asymptomatic relatives presenting with unexplained subacute encephalopathy and abnormal movements. PMID: 27749535
    5. The direct binding and activation of SLC19A3 expression by HIF-1alpha during hypoxic stress PMID: 27743994
    6. The mutation of SLC19A3 is related to Biotin-thiamine-responsive basal ganglia disease. PMID: 27905264
    7. Species differences in the substrate specificity of THTR-2 between human and mouse orthologues were observed. PMID: 26528626
    8. large genomic deletions occur in the regulatory region of SLC19A3 in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy PMID: 26863430
    9. Genetic variation in the SLC19A3 thiamine transporter at 2:228563818T/C may make a modest contribution towards the genetic susceptibility to alcohol dependence syndrome. PMID: 24667528
    10. This study provided evidence that biotin-thiamine-responsive basal ganglia disease is the result of SLC19A2 mutation. PMID: 24372704
    11. TM4SF4 interacts with hTHTR-2 and influences the physiological function of the thiamine transporter in human intestinal epithelial cells. PMID: 24282057
    12. These studies demonstrate that the human intestinal thiamine uptake is adaptively regulated by the extracellular substrate level via transcriptional regulation of the THTR-2 system, and that SP1 transcriptional factor is involved in this regulation. PMID: 23989004
    13. Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes. PMID: 23285265
    14. A new, severe phenotype of SLC19A3 is identified in early-infantile, lethal encephalopathy characterized by subtotal brain degeneration. PMID: 23482991
    15. Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome PMID: 23423671
    16. Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia PMID: 22777947
    17. These results suggested that aberrant SLC19A3 promoter hypermethylation in plasma may be a novel biomarker for breast and gastric cancer diagnosis. PMID: 21789241
    18. The attenuated increase in SLC19A3 expression after HIF-1alpha knockdown suggests a role for HIF-1alpha mediated pathways regulating SLC19A3 gene expression. PMID: 20930543
    19. these cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments. PMID: 21176162
    20. Results suggest that methylation of SLC19A3 promoter could be a novel biomarker for early gastric cancer development. PMID: 19816091
    21. thiamine transporter THTR2 gene expression is down-regulated in breast cancer PMID: 12861052
    22. characterization of the SLC19A3 promoter in vitro and in vivo and demonstrate the importance of an SP1 cis-regulatory element in regulating promoter activity of this important human gene. PMID: 15217784
    23. One of the genes up-regulated by SLC19A3 protein (THTR2) transfection was down-regulated by thiamine depletion (CYP4B1) PMID: 15328374
    24. Expression of SLC19A3 in leukocytes is a relatively sensitive indicator of marginal biotin deficiency. PMID: 15623830
    25. In this segment, each family displayed one of two different missense mutations that altered the coding sequence of SLC19A3, the gene for a transporter related to the reduced-folate (encoded by SLC19A1) and thiamin (encoded by SLC19A2) transporters. PMID: 15871139
    26. differentiation of intestinal epithelial cells is associated with an up-regulation in thiamin uptake process which is mediated via transcriptional regulatory mechanisms that involve the SLC19A2 and SLC19A3 genes PMID: 16055442
    27. analysis of targeting and trafficking of hTHTR1 and hTHTR2 in epithelial cells PMID: 16371350
    28. Thiamine uptake by HEK-293 cells is mediated via a specific pH-dependent process, which involves both the hTHTR-1 and hTHTR-2. PMID: 16705148
    29. hTHTR2 mutants (G23V, T422A) both abrogate thiamine transport activity rather than targeting of hTHTR2 to the cell surface. PMID: 16790503
    30. THTR2 is involved in thiamine transport by reginal pigment epithelium. PMID: 17463047
    31. Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process. PMID: 19423748

    顯示更多

    收起更多

  • 相關疾病:
    Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)
  • 亞細胞定位:
    Membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Reduced folate carrier (RFC) transporter (TC 2.A.48) family
  • 組織特異性:
    Widely expressed but most abundant in placenta, kidney and liver.
  • 數據庫鏈接:

    HGNC: 16266

    OMIM: 606152

    KEGG: hsa:80704

    STRING: 9606.ENSP00000258403

    UniGene: Hs.221597



主站蜘蛛池模板: av午夜久久蜜桃传媒软件| 极品少妇小泬50pthepon| 开心久久婷婷综合中文字幕| 亚洲色成人一区二区三区小说| 色噜噜亚洲男人的天堂| 欧美性色老妇人| 综合亚洲伊人午夜网| 亚洲国产精品久久久久爰色欲| 国产精品成人嫩草影院| 午夜人性色福利无码视频在线观看| 精品无码一区二区三区av| 自拍偷在线精品自拍偷无码专区| 一个人看的www日本高清视频| 疯狂做受xxxx高潮不断| 97国产揄拍国产精品人妻| 吃奶呻吟打开双腿做受视频| 精品一区二区三区无码免费直播 | 国产高潮又爽又刺激的视频 | 国产精品亚洲аv久久| 日韩av影院在线观看| 亚洲精品无码久久千人斩| 少妇无码精油按摩专区| 国产成人片无码视频在线观看| 欧美性受xxxx黑人xyx性爽 | 成年性午夜无码免费视频| 精品亚洲国产成人av在线小说| 精品人妻av区乱码| 亚洲人成在线观看网站不卡 | 国产极品精品自在线| 未满十八勿入午夜免费网站| 欧美丰满老妇性猛交| 亚洲国产精品一区二区久久hs| 中文文字幕文字幕亚洲色| 久久婷婷是五月综合色| 美女视频黄是免费| 国产熟妇午夜精品aaa| 精品亚洲国产成人av制服| 四虎影视永久免费观看| 亚洲一区无码中文字幕乱码| 亚洲一区二区色情苍井空| 农民人伦一区二区三区|