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Volumn 25, Issue 1, 2010, Pages 112-119

Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore

Author keywords

Clinical pharmacology; Human genetics; OCTN2; Pharmacogenetics; Single nucleotide polymorphism; SLC22 transporters

Indexed keywords

MEMBRANE PROTEIN; ORGANIC CATION TRANSPORTER 2; PROTEIN SLC22A5; UNCLASSIFIED DRUG;

EID: 77949285973     PISSN: 13474367     EISSN: 18800920     Source Type: Journal    
DOI: 10.2133/dmpk.25.112     Document Type: Article
Times cited : (13)

References (32)
  • 1
    • 0032493741 scopus 로고    scopus 로고
    • Molecular and functional identification of sodium ion-dependent, high-affinity human carnitine transporter OCTN2
    • Tamai, I., Ohashi, R., Nezu, J., Yabuuchi, H., Oku, A., Shimane, M., Sai, Y. and Tsuji, A.: Molecular and functional identification of sodium ion-dependent, high-affinity human carnitine transporter OCTN2. J. Biol. Chem., 273: 20378-20382 (1998).
    • (1998) J. Biol. Chem , vol.273 , pp. 20378-20382
    • Tamai, I.1    Ohashi, R.2    Nezu, J.3    Yabuuchi, H.4    Oku, A.5    Shimane, M.6    Sai, Y.7    Tsuji, A.8
  • 2
    • 0032767691 scopus 로고    scopus 로고
    • Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter
    • Wu, X., Huang, W., Prasad, P. D., Seth P., Rajan, D. P., Leibach, F. H., Chen, J., Conway, S. J. and Ganapathy, V.: Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. J. Pharmacol. Exp. Ther., 290: 1482-1492 (1999).
    • (1999) J. Pharmacol. Exp. Ther , vol.290 , pp. 1482-1492
    • Wu, X.1    Huang, W.2    Prasad, P.D.3    Seth, P.4    Rajan, D.P.5    Leibach, F.H.6    Chen, J.7    Conway, S.J.8    Ganapathy, V.9
  • 3
    • 0035132434 scopus 로고    scopus 로고
    • Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2
    • Ohashi, R., Tamai, I., Nezu, J. J., Nikaido, H., Hashimoto, N., Oku, A., Sai, Y., Shimane, M. and Tsuji, A.: Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2. Mol. Pharmacol., 59: 358-366 (2001).
    • (2001) Mol. Pharmacol , vol.59 , pp. 358-366
    • Ohashi, R.1    Tamai, I.2    Nezu, J.J.3    Nikaido, H.4    Hashimoto, N.5    Oku, A.6    Sai, Y.7    Shimane, M.8    Tsuji, A.9
  • 5
    • 0036952563 scopus 로고    scopus 로고
    • Catalog of 238 variations among six human genes encoding solute carriers (hSLCs) in the Japanese population
    • Saito, S., Iida, A., Sekine, A., Ogawa, C., Kawauchi, S., Higuchi, S. and Nakamura, Y.: Catalog of 238 variations among six human genes encoding solute carriers (hSLCs) in the Japanese population. J. Hum. Genet., 47: 576-584 (2002).
    • (2002) J. Hum. Genet , vol.47 , pp. 576-584
    • Saito, S.1    Iida, A.2    Sekine, A.3    Ogawa, C.4    Kawauchi, S.5    Higuchi, S.6    Nakamura, Y.7
  • 6
    • 0033978634 scopus 로고    scopus 로고
    • Cancer and anticancer therapy-induced modifications on metabolism mediated by carnitine system
    • Peluso, G., Nicolai, R., Reda, E., Benatti, P., Barbarisi, A. and Calvani, M.: Cancer and anticancer therapy-induced modifications on metabolism mediated by carnitine system. J. Cell. Physiol., 182: 339-350 (2000).
    • (2000) J. Cell. Physiol , vol.182 , pp. 339-350
    • Peluso, G.1    Nicolai, R.2    Reda, E.3    Benatti, P.4    Barbarisi, A.5    Calvani, M.6
  • 7
    • 34249943356 scopus 로고    scopus 로고
    • Polyspecific organic cation transporters: Structure, function, physiological roles, and biopharmaceutical implications
    • Koepsell, H., Lips, K. and Volk, C.: Polyspecific organic cation transporters: structure, function, physiological roles, and biopharmaceutical implications. Pharm. Res., 24: 1227-1251 (2007).
    • (2007) Pharm. Res , vol.24 , pp. 1227-1251
    • Koepsell, H.1    Lips, K.2    Volk, C.3
  • 9
    • 33750181267 scopus 로고    scopus 로고
    • Regional levels of drug transporters along the human intestinal tract: Co-expression of ABC and SLC transporters and comparison with Caco-2 cells
    • Englund, G., Rorsman, F., Ronnblom, A., Karlbom, U., Lazorova, L., Grasjo, J., Kindmark, A. and Artursson, P.: Regional levels of drug transporters along the human intestinal tract: co-expression of ABC and SLC transporters and comparison with Caco-2 cells. Eur. J. Pharm. Sci., 29: 269-277 (2006).
    • (2006) Eur. J. Pharm. Sci , vol.29 , pp. 269-277
    • Englund, G.1    Rorsman, F.2    Ronnblom, A.3    Karlbom, U.4    Lazorova, L.5    Grasjo, J.6    Kindmark, A.7    Artursson, P.8
  • 10
    • 0012738864 scopus 로고    scopus 로고
    • Pharmacokinetics of L-carnitine
    • Evans, A. M. and Fornasini, G.: Pharmacokinetics of L-carnitine. Clin. Pharmacokinet., 42: 941-967 (2003).
    • (2003) Clin. Pharmacokinet , vol.42 , pp. 941-967
    • Evans, A.M.1    Fornasini, G.2
  • 13
    • 0024542759 scopus 로고
    • Carnitine concentration during the development of human tissues
    • Nakano, C., Takashima, S. and Takeshita, K.: Carnitine concentration during the development of human tissues. Early Hum. Dev., 19: 21-27 (1989).
    • (1989) Early Hum. Dev , vol.19 , pp. 21-27
    • Nakano, C.1    Takashima, S.2    Takeshita, K.3
  • 14
    • 0021024932 scopus 로고
    • Carnitine metabolism and functions
    • Bremer, J.: Carnitine metabolism and functions. Physiol. Rev., 63: 1420-1480 (1983).
    • (1983) Physiol. Rev , vol.63 , pp. 1420-1480
    • Bremer, J.1
  • 15
    • 0034842137 scopus 로고    scopus 로고
    • Carnitine transport by organic cation transporters and systemic carnitine deficiency
    • Lahjouji, K., Mitchell, G. A. and Qureshi, I. A.: Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol. Genet. Metab., 73: 287-297 (2001).
    • (2001) Mol. Genet. Metab , vol.73 , pp. 287-297
    • Lahjouji, K.1    Mitchell, G.A.2    Qureshi, I.A.3
  • 16
    • 0038042481 scopus 로고    scopus 로고
    • Carnitine transport: Pathophysiology and metabolism of known molecular defects
    • Tein, I.: Carnitine transport: pathophysiology and metabolism of known molecular defects. J. Inherit. Metab. Dis., 26: 147-169 (2003).
    • (2003) J. Inherit. Metab. Dis , vol.26 , pp. 147-169
    • Tein, I.1
  • 17
    • 0032746479 scopus 로고    scopus 로고
    • Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
    • Koizumi, A., Nozaki, J., Ohura, T., Kayo, T., Wada, Y., Nezu, J., Ohashi, R., Tamai, I., Shoji, Y., Takada, G., Kibira, S., Matsuishi, T. and Tsuji, A.: Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum. Mol. Genet., 8: 2247-2254 (1999).
    • (1999) Hum. Mol. Genet , vol.8 , pp. 2247-2254
    • Koizumi, A.1    Nozaki, J.2    Ohura, T.3    Kayo, T.4    Wada, Y.5    Nezu, J.6    Ohashi, R.7    Tamai, I.8    Shoji, Y.9    Takada, G.10    Kibira, S.11    Matsuishi, T.12    Tsuji, A.13
  • 18
    • 0035052047 scopus 로고    scopus 로고
    • Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
    • Wilcken, B., Wiley, V., Sim, K. G. and Carpenter, K.: Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J. Pediatr., 138: 581-584 (2001).
    • (2001) J. Pediatr , vol.138 , pp. 581-584
    • Wilcken, B.1    Wiley, V.2    Sim, K.G.3    Carpenter, K.4
  • 19
    • 0032997735 scopus 로고    scopus 로고
    • Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
    • Tang, N. L., Ganapathy, V., Wu, X., Hui, J., Seth, P., Yuen, P. M., Wanders, R. J., Fok, T. F. and Hjelm, N. M.: Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum. Mol. Genet., 8: 655-660 (1999).
    • (1999) Hum. Mol. Genet , vol.8 , pp. 655-660
    • Tang, N.L.1    Ganapathy, V.2    Wu, X.3    Hui, J.4    Seth, P.5    Yuen, P.M.6    Wanders, R.J.7    Fok, T.F.8    Hjelm, N.M.9
  • 22
    • 33646510996 scopus 로고    scopus 로고
    • Pharmacological rescue of carnitine transport in primary carnitine deficiency
    • Amat di San Filippo, C., Pasquali, M. and Longo, N.: Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum. Mutat., 27: 513-523 (2006).
    • (2006) Hum. Mutat , vol.27 , pp. 513-523
    • Amat di San Filippo, C.1    Pasquali, M.2    Longo, N.3
  • 23
    • 0033736393 scopus 로고    scopus 로고
    • Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation
    • Wang, Y., Taroni, F., Garavaglia, B. and Longo, N.: Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation. Hum. Mutat., 16: 401-407 (2000).
    • (2000) Hum. Mutat , vol.16 , pp. 401-407
    • Wang, Y.1    Taroni, F.2    Garavaglia, B.3    Longo, N.4
  • 24
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett, J. C., Fry, B., Maller, J. and Daly, M. J.: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics., 21: 263-265 (2005).
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 25
    • 0032231462 scopus 로고    scopus 로고
    • Evidence for linkage of human primary systemic carnitine deficiency with D5S436. A novel gene locus on chromosome 5q
    • Shoji, Y., Koizumi, A., Kayo, T., Ohata, T., Takahashi, T., Harada, K. and Takada, G.: Evidence for linkage of human primary systemic carnitine deficiency with D5S436. A novel gene locus on chromosome 5q. Am. J. Hum. Genet., 63, 101-108 (1998).
    • (1998) Am. J. Hum. Genet , vol.63 , pp. 101-108
    • Shoji, Y.1    Koizumi, A.2    Kayo, T.3    Ohata, T.4    Takahashi, T.5    Harada, K.6    Takada, G.7
  • 27
    • 0033517087 scopus 로고    scopus 로고
    • Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
    • Burwinkel, B., Kreuder, J., Schweitzer, S., Vorgerd, M., Gempel, K., Gerbitz, K. D. and Kilimann, M. W.: Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. Biochem. Biophys. Res. Commun., 161: 484-487 (1999).
    • (1999) Biochem. Biophys. Res. Commun , vol.161 , pp. 484-487
    • Burwinkel, B.1    Kreuder, J.2    Schweitzer, S.3    Vorgerd, M.4    Gempel, K.5    Gerbitz, K.D.6    Kilimann, M.W.7
  • 28
    • 18244420879 scopus 로고    scopus 로고
    • A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients
    • Tang, N. L. S., Hwu, W. L., Chan, R. T., Law, L. K., Fung, L. M. and Zhang, W. M.: A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum. Mutat., 20: 232-239 (2002).
    • (2002) Hum. Mutat , vol.20 , pp. 232-239
    • Tang, N.L.S.1    Hwu, W.L.2    Chan, R.T.3    Law, L.K.4    Fung, L.M.5    Zhang, W.M.6
  • 30
    • 79959503826 scopus 로고    scopus 로고
    • The International HapMap Consortium: The International Hap-Map Project
    • The International HapMap Consortium: The International Hap-Map Project. Nature., 426: 789-796 (2003).
    • (2003) Nature , vol.426 , pp. 789-796
  • 31
    • 71449106124 scopus 로고    scopus 로고
    • Genetic variations of the SLC22A4 gene in the Chinese and Indian populations of Singapore
    • Toh, S. L., Koo, S. H., Limenta, L. M. G., Yee, J. Y., Murray, M. and Lee, J. D.: Genetic variations of the SLC22A4 gene in the Chinese and Indian populations of Singapore. Drug Metab. Pharmacokinet., 24(5): 475-481 (2009).
    • (2009) Drug Metab. Pharmacokinet , vol.24 , Issue.5 , pp. 475-481
    • Toh, S.L.1    Koo, S.H.2    Limenta, L.M.G.3    Yee, J.Y.4    Murray, M.5    Lee, J.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.