| 1 | SLC22A5
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| Muscle contraction increases carnitine uptake via translocation of OCTN2.
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| Furuichi Y, Sugiura T, Kato Y, Takakura H, Hanai Y, Hashimoto T, Masuda K.
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| Biochem Biophys Res Commun 418(4):774-9. doi: 10.1016/j.bbrc.2012.01.101. Epub 2012 Jan 28.
2012
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| 2 | SLC22A5
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| Organic cation/carnitine transporter, OCTN2, transcriptional activity is regulated by osmotic stress in epididymal cells.
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| Cotton LM, Rodriguez CM, Suzuki K, Orgebin-Crist MC, Hinton BT.
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| Mol Reprod Dev 77(2):114-25.PMID: 19899138 2010
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| 3 | SLC22A5
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| Involvement of OCTN2 in the transport of acetyl-L-carnitine across the inner blood-retinal barrier.
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| achikawa M, Takeda Y, Tomi M, Hosoya K.
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| Invest Ophthalmol Vis Sci. 51(1):430-6. 2010
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| 4 | OCTN3, SLC22A4, SLC22A5
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| Colon OCTN2 gene expression is up-regulated by peroxisome proliferator-activated receptor gamma in humans and mice and contributes to local and systemic carnitine homeostasis.
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| D'Argenio G, Petillo O, Margarucci S, Torpedine A, Calarco A, Koverech A, Boccia A, Paolella G, Peluso G.
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| J Biol Chem 285(35):27078-87. Epub 2010 Jun 17.PMID: 20558736 2010
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| 5 | CDSP, SLC22A5
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| Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
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| Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.
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| Hum Mutat 31(8):E1632-51.PMID: 20574985 2010
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| 6 | CDSP, SLC22A5
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| Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.
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| Komlósi K, Magyari L, Talián GC, Nemes E, Káposzta R, Mogyorósy G, Méhes K, Melegh B.
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| J Inherit Metab Dis Inherit Metab Dis. 2009 Feb 24. [Epub ahead of print]PMID: 19238580 2009
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| 7 | OCTN2, slc22A5
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| Expression and Localization of Carnitine/Organic Cation Transporter OCTN1 and OCTN2 in Ocular Epithelium
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| Garrett Q, Xu S, Simmons PA, Vehige J, Flanagan JL, Willcox MD.
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| Invest Ophthalmol Vis Sci. 49(11):4844-9 2008
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| 8 | SLC22A5
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| Localization of organic cation/carnitine transporter (OCTN2) in cells forming the blood-brain barrier.
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| Miecz D, Januszewicz E, Czeredys M, Hinton BT, Berezowski V, Cecchelli R, Nałecz KA.
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| J Neurochem 104(1):113-23. Epub 2007 Nov 6.PMID: 17995936 2008
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| 9 | CPT1A, CDSP, SLC22A5, SLC25A20, CACT, CPT2
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| Disorders of carnitine transport and the carnitine cycle.
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| Longo N, Amat di San Filippo C, Pasquali M.
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| Am J Med Genet C Semin Med Genet 142(2):77-85. Review. 2006
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| 10 | IBD5, SLC22A4, SLC22A5
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| Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease.
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| Babusukumar U, Wang T, McGuire E, Broeckel U, Kugathasan S.
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| Am J Gastroenterol 101(6):1354-61. 2006
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| 11 | SLC22A4, SLC22A5
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| Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.
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| Fisher SA, Hampe J, Onnie CM, Daly MJ, Curley C, Purcell S, Sanderson J, Mansfield J, Annese V, Forbes A, Lewis CM, Schreiber S, Rioux JD, Mathew CG.
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| Hum Mutat 27(8):778-85. 2006
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| 12 | SLC22A5
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| Uptake of cardiovascular drugs into the human heart: expression, regulation, and function of the carnitine transporter OCTN2 (SLC22A5).
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| Grube M, Meyer zu Schwabedissen HE, Prger D, Haney J, Mritz KU, Meissner K, Rosskopf D, Eckel L, Bhm M, Jedlitschky G, Kroemer HK.
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| Circulation 113(8):1114-22. Epub 2006 Feb 20. 2006
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| 13 | SLC22A4, SLC22A5
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| The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease.
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| Noble CL, Nimmo ER, Drummond H, Ho GT, Tenesa A, Smith L, Anderson N, Arnott ID, Satsangi J.
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| Gastroenterology 129(6):1854-64. 2005
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| 14 | PDZK1, SLC22A5
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| PDZK1 directly regulates the function of organic cation/carnitine transporter OCTN2.
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| Kato Y, Sai Y, Yoshida K, Watanabe C, Hirata T, Tsuji A.
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| Mol Pharmacol. 67(3):734-43. 2005
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| 15 | SLC22A4, SLC22A5
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| Functional variants of OCTN cation transporter genes are associated with Crohn disease.
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| Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA.
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| Nat Genet 36(5):471-5. Epub 2004 Apr 11. 2004
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| 16 | CDSP, SLC22A5
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| Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
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| Melegh B, Bene J, Mogyorosy G, Havasi V, Komlosi K, Pajor L, Olah E, Kispal G, Sumegi B, Mehes K.
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| Am J Med Genet A 131A(2):121-6. 2004
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| 17 | CDSP, SLC22A5
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| Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
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| Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N.
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| J Inherit Metab Dis 27(6):778-80. 2004
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| 18 | DLG5, SLC22A4, SLC22A5
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| Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease.
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| Yamazaki K, Takazoe M, Tanaka T, Ichimori T, Saito S, Iida A, Onouchi Y, Hata A, Nakamura Y.
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| J Hum Genet 49(12):664-8. Epub 2004 Oct 19. 2004
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| 19 | SLC22A5
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| L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2.
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| Lahjouji K, Elimrani I, Lafond J, Leduc L, Qureshi IA, Mitchell GA.
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| Am J Physiol Cell Physiol. 287(2):C263-9. 2004
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| 20 | CDSP, SLC22A5
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| Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.
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| Amat di San Filippo C, Wang Y, Longo N.
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| J Biol Chem 278(48):47776-84. Epub 2003 Sep 23. 2003
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| 21 | OCTN3, SLC22A4, SLC22A5
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| Characterization of organic cation/carnitine transporter family in human sperm.
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| Xuan W, Lamhonwah AM, Librach C, Jarvi K, Tein I.
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| Biochem Biophys Res Commun 306(1):121-8. Review. 2003
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| 22 | SLC22A5
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| Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
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| Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C.
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| Mol Genet Metab 77(3):195-201. 2002
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| 23 | CDSP, SLC22A5
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| A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
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| Wang Y, Kelly MA, Cowan TM, Longo N.
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| Hum Mutat 15(3):238-45. 2000
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| 24 | CDSP, SLC22A5
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| Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
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| Wang Y, Taroni F, Garavaglia B, Longo N.
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| Hum Mutat 16(5):401-7. 2000
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| 25 | SLC22A4, SLC22A5, OCTN3
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| Molecular and functional characterization of organic cation/carnitine transporter family in mice.
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| Tamai I, Ohashi R, Nezu JI, Sai Y, Kobayashi D, Oku A, Shimane M, Tsuji A.
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| J Biol Chem 275(51):40064-72. 2000
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| 26 | CDSP, SLC22A5
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| Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
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| Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A.
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| Nat Genet 21 : 91-94. 1999
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| 27 | CDSP, SLC22A5
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| Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
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| Tang NLS, et al.
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| Hum Mol Genet 8(4):655-60. 1999
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| 28 | CDSP, SLC22A5
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| Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
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| Wang Y, et al.
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| Proc Natl Acad Sci U S A 96(5):2356-60. 1999
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| 29 | CDSP, SLC22A5
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| Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
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| Vaz FM, et al.
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| Hum Genet 105(1-2):157-61. 1999
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| 30 | CDSP, SLC22A5
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| Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
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| Koizumi A, et al.
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| Hum Mol Genet 8(12):2247-2254 1999
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| 31 | SLC22A5
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| Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
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| Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW.
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| Biochem Biophys Res Commun 261(2):484-7 1999
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| 32 | CDSP, SLC22A5
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| Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
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| Seth P, Wu X, Huang W, Leibach FH, Ganapathy V.
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| J Biol Chem 274(47):33388-92 1999
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| 33 | SLC22A5
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| cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family.
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| Wu X, et al.
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| Biochem Biophys Res Commun 246 : 589-595. 1998
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| 34 | SLC22A5
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| Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.
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| Tamai I, et al.
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| J Biol Chem 273 : 20378-20382. 1998
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| 35 | CDSP, SLC22A5
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| Carnitine uptake defect : frameshift mutations in the human plasmalemmal carnitine transporter gene.
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| Lamhonwah AM, et al.
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| Biochem Biophys Res Commun 252 : 396-401. 1998
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| 36 | SLC22A1, SLC22A2, SLC22A3, SLC22A4, SLC22A5
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| Molecular cloning and characterization of a novel liver-specific transport protein.
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| Simonson GD, Vincent AC, Roberg KJ, Huang Y, Iwanij V.
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| J Cell Sci 107 ( Pt 4):1065-72. 1994
|