SLC19A3 Antibody

說明書

中文名稱：

SLC19A3兔多克隆抗體
貨號：

CSB-PA021431GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9BZV2
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,Mouse
免疫原：

Human SLC19A3
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
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
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
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相關疾?。?/div>
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

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