The encoded protein is a high-affinity transporter specific to the intake of thiamine.[11][12] Thiamine transport is not inhibited by other organic cations nor affected by sodium ion concentration; it is stimulated by a proton gradient directed outward, with an optimal pH between 8.0 and 8.5.[13] TC1 is transported to the cell membrane by intracellular vesicles via microtubules.[14][15]
Mutations in the SLC19A2 gene can cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.[11][12]
^Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". International Journal of Hematology. 92 (3): 524–6. doi:10.1007/s12185-010-0681-y. PMID20835854. S2CID21487938.
^ ab This article incorporates text from this source, which is in the public domain.
^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". Nature Genetics. 22 (3): 300–4. doi:10.1038/10372. PMID10391221. S2CID26615141.
Guerrini I, Thomson AD, Cook CC, McQuillin A, Sharma V, Kopelman M, Reynolds G, Jauhar P, Harper C, Gurling HM (August 2005). "Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS)". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 137B (1): 17–9. doi:10.1002/ajmg.b.30194. PMID16015585. S2CID37693278.
Ashokkumar B, Vaziri ND, Said HM (October 2006). "Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms". American Journal of Physiology. Renal Physiology. 291 (4): F796–805. doi:10.1152/ajprenal.00078.2006. PMID16705148.
Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG (January 2006). "Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families". Acta Paediatrica. 95 (1): 99–104. doi:10.1080/08035250500323715. PMID16373304.
Lagarde WH, Underwood LE, Moats-Staats BM, Calikoglu AS (March 2004). "Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome". American Journal of Medical Genetics. Part A. 125A (3): 299–305. doi:10.1002/ajmg.a.20506. PMID14994241. S2CID12191136.