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