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SLC19A3 Antibody

  • 货号：
    CSB-PA021431GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9BZV2
  • 基因名：
    SLC19A3
  • 别名：
    SLC19A3Thiamine transporter 2 antibody; ThTr-2 antibody; ThTr2 antibody; Solute carrier family 19 member 3 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human SLC19A3
  • 免疫原种属：
    Homo sapiens (Human)
  • 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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 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：
    Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.
  • 基因功能参考文献：
    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

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  • 相关疾病：
    Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Reduced folate carrier (RFC) transporter (TC 2.A.48) family
  • 组织特异性：
    Widely expressed but most abundant in placenta, kidney and liver.
  • 数据库链接：

    HGNC: 16266

    OMIM: 606152

    KEGG: hsa:80704

    STRING: 9606.ENSP00000258403

    UniGene: Hs.221597