Recombinant Human Thiamine transporter 1 (SLC19A2), partial

1. SLC19A2 mutation is associated with permanent neonatal diabetes mellitus. PMID: 28371426
2. A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.( PMID: 29969779
3. A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome. PMID: 25707023
4. Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma. PMID: 24771227
5. The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. PMID: 24357267
6. the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism PMID: 24520986
7. Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia. PMID: 24355766
8. Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient. PMID: 23638917
9. Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak. PMID: 24509276
10. study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus. PMID: 24072090
11. These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines. PMID: 23642734
12. study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia PMID: 23289844
13. Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes. PMID: 23285265
14. Thiamine transporter 2 deficiency is a recessive disease caused by mutations in the SLC19A3 genes. PMID: 23589815
15. A non-sense mutation SLC19A2 was found in four patients with Thiamine-responsive megaloblastic anemia, indicating its high frequency in Persian population. PMID: 23454484
16. Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. PMID: 22369132
17. Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A. PMID: 22876572
18. Data show that MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor. PMID: 20466634
19. No SLC25A38 mutations were found among sixty CSA probands examined PMID: 19731322
20. the effect of mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on functional activity and membrane expression of the transporter. PMID: 12065289
21. insertion of the thiamine transporter 1 linkers into reduced folate carrier (D215-R263 Delta) at position 215 restored 60-80% of wild-type levels of transport PMID: 12227830
22. correlate structure with cellular expression profile and reveal a critical dependence on backbone integrity and microtubule-based trafficking processes for functional expression PMID: 12454006
23. the importance of GKLF, NF-1, and SP-1 in regulating the activity of the SLC19A2 promoter PMID: 12900388
24. hTHTR-2 is expressed along the human gastrointestinal tract and that expression of its protein in intestinal epithelia is mainly localized to the apical brush-border membrane domain PMID: 14615284
25. this functional characterization of the D93H mutation of THTR1 provides a molecular basis for Rogers syndrome PMID: 14622275
26. Missense mutation in the SLC19A2 gene is associated with thiamine-responsive megaloblastic anemia syndrome PMID: 14994241
27. Findings indicate that the RFC1 genotype is a possible susceptible gene marker for an increased neural tube defects risk in Chinese population. PMID: 15952116
28. Three genetic variants of SLC19A2 gene were identified in Wernicke Korsakoff syndrome patients. PMID: 16015585
29. 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
30. analysis of targeting and trafficking of hTHTR1 and hTHTR2 in epithelial cells PMID: 16371350
31. We have identified a novel missense mutation (T158R) that was excluded in 100 control alleles. PMID: 16373304
32. 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
33. results show spectrum of mutant phenotypes, underlining that thiamine-responsive megaloblastic anaemia can result from decreased thiamine transport underpinned by changes in THTR1 expression levels, cellular targeting and/or protein transport activity PMID: 17331069
34. THTR1 is involved in thiamine transport by retinal pigment epithelium. Mutations found in thiamine-responsive megaloblastic anemia impaired THTR1 expression/function. PMID: 17463047
35. Three infants with thiamine-responsive megaloblastic anemia were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. PMID: 17659067
36. findings suggest that the RFC G80A polymorphism may influence outcome in childhood ALL patients being treated with methotrexate PMID: 19340000
37. Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process. PMID: 19423748

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HGNC: 10938

OMIM: 249270

KEGG: hsa:10560

STRING: 9606.ENSP00000236137

UniGene: Hs.30246