Gene Review:
SLC19A2 - solute carrier family 19 (thiamine...
Homo sapiens
Synonyms:
Solute carrier family 19 member 2, TC1, THMD1, THT1, THTR1, ...
- Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. Nat. Genet. (1999)
- The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. Raz, T., Labay, V., Baron, D., Szargel, R., Anbinder, Y., Barrett, T., Rabl, W., Viana, M.B., Mandel, H., Baruchel, A., Cayuela, J.M., Cohen, N. Hum. Mutat. (2000)
- Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. Thameem, F., Wolford, J.K., Bogardus, C., Prochazka, M. Mol. Genet. Metab. (2001)
- Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis. Liu, S., Huang, H., Lu, X., Golinski, M., Comesse, S., Watt, D., Grossman, R.B., Moscow, J.A. Mol. Cancer Res. (2003)
- The opsonizing ligand on Salmonella typhimurium influences incorporation of specific, but not azurophil, granule constituents into neutrophil phagosomes. Joiner, K.A., Ganz, T., Albert, J., Rotrosen, D. J. Cell Biol. (1989)
- Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS). Guerrini, I., Thomson, A.D., Cook, C.C., McQuillin, A., Sharma, V., Kopelman, M., Reynolds, G., Jauhar, P., Harper, C., Gurling, H.M. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005)
- Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Diaz, G.A., Banikazemi, M., Oishi, K., Desnick, R.J., Gelb, B.D. Nat. Genet. (1999)
- Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). Boros, L.G., Steinkamp, M.P., Fleming, J.C., Lee, W.N., Cascante, M., Neufeld, E.J. Blood (2003)
- Specific association of thiamine-coated gadolinium nanoparticles with human breast cancer cells expressing thiamine transporters. Oyewumi, M.O., Liu, S., Moscow, J.A., Mumper, R.J. Bioconjug. Chem. (2003)
- Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome. Pomero, F., Allione, A., Molinar Min, A., La Selva, M., Porta, M. Acta diabetologica. (2000)
- Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. Nabokina, S.M., Reidling, J.C., Said, H.M. J. Biol. Chem. (2005)
- Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Zeng, W.Q., Al-Yamani, E., Acierno, J.S., Slaugenhaupt, S., Gillis, T., MacDonald, M.E., Ozand, P.T., Gusella, J.F. Am. J. Hum. Genet. (2005)
- Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters. Reidling, J.C., Nabokina, S.M., Balamurugan, K., Said, H.M. J. Cell. Physiol. (2006)
- Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis. Balamurugan, K., Said, H.M. Am. J. Physiol. Gastrointest. Liver Physiol. (2002)
- In vitro and in vivo characterization of the minimal promoter region of the human thiamin transporter SLC19A2. Reidling, J.C., Said, H.M. Am. J. Physiol., Cell Physiol. (2003)
- Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. Lagarde, W.H., Underwood, L.E., Moats-Staats, B.M., Calikoglu, A.S. Am. J. Med. Genet. A (2004)
- Mechanism of thiamine uptake by human colonocytes: studies with cultured colonic epithelial cell line NCM460. Said, H.M., Ortiz, A., Subramanian, V.S., Neufeld, E.J., Moyer, M.P., Dudeja, P.K. Am. J. Physiol. Gastrointest. Liver Physiol. (2001)
- Expression and promoter analysis of SLC19A2 in the human intestine. Reidling, J.C., Subramanian, V.S., Dudeja, P.K., Said, H.M. Biochim. Biophys. Acta (2002)
- SLC19A3 encodes a second thiamine transporter ThTr2. Rajgopal, A., Edmondnson, A., Goldman, I.D., Zhao, R. Biochim. Biophys. Acta (2001)
- Characteristics of thiamine uptake by the BeWo human trophoblast cell line. Keating, E., Lemos, C., Azevedo, I., Martel, F. J. Biochem. Mol. Biol. (2006)
- Characterization of a murine high-affinity thiamine transporter, Slc19a2. Fleming, J.C., Steinkamp, M.P., Kawatsuji, R., Tartaglini, E., Pinkus, J.L., Pinkus, G.S., Fleming, M.D., Neufeld, E.J. Mol. Genet. Metab. (2001)
- Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome. Valerio, G., Franzese, A., Poggi, V., Tenore, A. Diabetes Care (1998)
- Spatial and temporal gene expression patterns occur during corm development. de Castro, L.A., Carneiro, M., Neshich, D.d.e. .C., de Paiva, G.R. Plant Cell (1992)
- Identification of a mouse thiamine transporter gene as a direct transcriptional target for p53. Lo, P.K., Chen, J.Y., Tang, P.P., Lin, J., Lin, C.H., Su, L.T., Wu, C.H., Chen, T.L., Yang, Y., Wang, F.F. J. Biol. Chem. (2001)
- TH1/TH2 and TC1/TC2 profiles in peripheral blood and bronchoalveolar lavage fluid cells in pulmonary sarcoidosis. Inui, N., Chida, K., Suda, T., Nakamura, H. J. Allergy Clin. Immunol. (2001)