SLC19A2
From Wikipedia, the free encyclopedia
Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene.[1][2][3] SLC19A2 is a thiamine transporter.
In melanocytic cells SLC19A2 gene expression may be regulated by MITF.[4]
Clinical significance
Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.[5]
References
- ↑ "Entrez Gene: solute carrier family 19 (thiamine transporter)".
- ↑ Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N (December 1997). "Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping". Am. J. Hum. Genet. 61 (6): 1335–41. doi:10.1086/301642. PMC 1716091. PMID 9399900.
- ↑ Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N (July 1999). "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness". Nat. Genet. 22 (3): 300–4. doi:10.1038/10372. PMID 10391221.
- ↑ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". Int. J. Hematol. 92 (3): 524–6. doi:10.1007/s12185-010-0681-y. PMID 20835854.
Further reading
- Guerrini I, Thomson AD, Cook CC, et al. (2005). "Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).". Am. J. Med. Genet. B Neuropsychiatr. Genet. 137B (1): 17–9. doi:10.1002/ajmg.b.30194. PMID 16015585.
- Subramanian VS, Mohammed ZM, Molina A, et al. (2007). "Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.". J. Physiol. (Lond.) 582 (Pt 1): 73–85. doi:10.1113/jphysiol.2007.128843. PMC 2075275. PMID 17463047.
- Ashokkumar B, Vaziri ND, Said HM (2006). "Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms.". Am. J. Physiol. Renal Physiol. 291 (4): F796–805. doi:10.1152/ajprenal.00078.2006. PMID 16705148.
- Nabokina SM, Reidling JC, Said HM (2005). "Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms.". J. Biol. Chem. 280 (38): 32676–82. doi:10.1074/jbc.M505243200. PMID 16055442.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome.". Mol. Cell Proteomics 7 (3): 499–508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348.
- Ehret GB, O'Connor AA, Weder A, et al. (2009). "Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.". Eur. J. Hum. Genet. 17 (12): 1650–7. doi:10.1038/ejhg.2009.94. PMC 2783544. PMID 19536175.
- Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
- Olsen BS, Hahnemann JM, Schwartz M, Østergaard E (2007). "Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.". Pediatr Diabetes 8 (4): 239–41. doi:10.1111/j.1399-5448.2007.00251.x. PMID 17659067.
- Subramanian VS, Marchant JS, Said HM (2007). "Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.". Clin. Sci. 113 (2): 93–102. doi:10.1042/CS20060331. PMID 17331069.
- Pei LJ, Zhu HP, Li ZW, et al. (2005). "Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects.". Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22 (3): 284–7. PMID 15952116.
- Haas RH (1988). "Thiamin and the brain.". Annu. Rev. Nutr. 8: 483–515. doi:10.1146/annurev.nu.08.070188.002411. PMID 3060175.
- Ricketts CJ, Minton JA, Samuel J, et al. (2006). "Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.". Acta Paediatr. 95 (1): 99–104. doi:10.1080/08035250500323715. PMID 16373304.
- Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS (2004). "Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.". Am. J. Med. Genet. A 125A (3): 299–305. doi:10.1002/ajmg.a.20506. PMID 14994241.
- Ashton LJ, Gifford AJ, Kwan E, et al. (2009). "Reduced folate carrier and methylenetetrahydrofolate reductase gene polymorphisms: associations with clinical outcome in childhood acute lymphoblastic leukemia.". Leukemia 23 (7): 1348–51. doi:10.1038/leu.2009.67. PMID 19340000.
- Bergmann AK, Campagna DR, McLoughlin EM, et al. (2010). "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.". Pediatr Blood Cancer 54 (2): 273–8. doi:10.1002/pbc.22244. PMC 2843911. PMID 19731322.
- Subramanian VS, Marchant JS, Said HM (2006). "Targeting and trafficking of the human thiamine transporter-2 in epithelial cells.". J. Biol. Chem. 281 (8): 5233–45. doi:10.1074/jbc.M512765200. PMID 16371350.
- Mee L, Nabokina SM, Sekar VT, et al. (2009). "Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.". Am. J. Physiol. Gastrointest. Liver Physiol. 297 (1): G197–206. doi:10.1152/ajpgi.00092.2009. PMC 2711754. PMID 19423748.
- Cheung CL, Chan BY, Chan V, et al. (2009). "Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.". Hum. Mol. Genet. 18 (4): 679–87. doi:10.1093/hmg/ddn397. PMID 19064610.
- Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.". Diabetes Care 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.
External links
- GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome
- SLC19A2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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