SLC19A3 Antibody

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

Show More

Hide All

HGNC: 16266

OMIM: 606152

KEGG: hsa:80704

STRING: 9606.ENSP00000258403

UniGene: Hs.221597