"cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family."
Wu X. , Prasad P.D. , Leibach F.H. , Ganapathy V.
Biochem. Biophys. Res. Commun.246:589-595(1998) [PubMed] [Europe PMC] [Abstract]

"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. , Tsuji A.
J. Biol. Chem.273:20378-20382(1998) [PubMed] [Europe PMC] [Abstract]

"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. , Yashino M. , Kato H. , Ohura T. , Tsujimoto G. , Hayakawa J. , Shimane M. , Tsuji A. more...
Nat. Genet.21:91-94(1999) [PubMed] [Europe PMC] [Abstract]

"OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2."
Maekawa S. , Mori D. , Nishiya T. , Takikawa O. , Horinouchi T. , Nishimoto A. , Kajita E. , Miwa S.
Biochim. Biophys. Acta1773:1000-1006(2007) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J. , Martin J. , Terry A. , Couronne O. , Grimwood J. , Lowry S. , Gordon L.A. , Scott D. , Xie G. , Huang W. , Hellsten U. , Tran-Gyamfi M. , She X. , Prabhakar S. , Aerts A. , Altherr M. , Bajorek E. , Black S. , Branscomb E. , Caoile C. , Challacombe J.F. , Chan Y.M. , Denys M. , Detter J.C. , Escobar J. , Flowers D. , Fotopulos D. , Glavina T. , Gomez M. , Gonzales E. , Goodstein D. , Grigoriev I. , Groza M. , Hammon N. , Hawkins T. , Haydu L. , Israni S. , Jett J. , Kadner K. , Kimball H. , Kobayashi A. , Lopez F. , Lou Y. , Martinez D. , Medina C. , Morgan J. , Nandkeshwar R. , Noonan J.P. , Pitluck S. , Pollard M. , Predki P. , Priest J. , Ramirez L. , Retterer J. , Rodriguez A. , Rogers S. , Salamov A. , Salazar A. , Thayer N. , Tice H. , Tsai M. , Ustaszewska A. , Vo N. , Wheeler J. , Wu K. , Yang J. , Dickson M. , Cheng J.-F. , Eichler E.E. , Olsen A. , Pennacchio L.A. , Rokhsar D.S. , Richardson P. , Lucas S.M. , Myers R.M. , Rubin E.M. more...
Nature431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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. , Ganapathy V.
J. Pharmacol. Exp. Ther.290:1482-1492(1999) [PubMed] [Europe PMC] [Abstract]

"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
Wollscheid B. , Bausch-Fluck D. , Henderson C. , O'Brien R. , Bibel M. , Schiess R. , Aebersold R. , Watts J.D.
Nat. Biotechnol.27:378-386(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V. , Lundgren D.H. , Hwang S.-I. , Rezaul K. , Wu L. , Eng J.K. , Rodionov V. , Han D.K.
Sci. Signal.2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"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. , Kilimann M.W.
Biochem. Biophys. Res. Commun.261:484-487(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency."
Vaz F.M. , Scholte H.R. , Ruiter J. , Hussaarts-Odijk L.M. , Rodrigues Pereira R. , Schweitzer S. , de Klerk J.B.C. , Waterham H.R. , Wanders R.J.A.
Hum. Genet.105:157-161(1999) [PubMed] [Europe PMC] [Abstract]

"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. , Hjelm N.M.
Hum. Mol. Genet.8:655-660(1999) [PubMed] [Europe PMC] [Abstract]

"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. , Tsuji A.
Hum. Mol. Genet.8:2247-2254(1999) [PubMed] [Europe PMC] [Abstract]

"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 F.H. , Ganapathy V.
J. Biol. Chem.274:33388-33392(1999) [PubMed] [Europe PMC] [Abstract]

"Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency."
Mayatepek E. , Nezu J. , Tamai I. , Oku A. , Katsura M. , Shimane M. , Tsuji A.
Hum. Mutat.15:118-118(2000) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the OCTN2 gene associated with residual carnitine transport activity."
Wang Y. , Kelly M.A. , Cowan T.M. , Longo N.
Hum. Mutat.15:238-245(2000) [PubMed] [Europe PMC] [Abstract]

"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.16:401-407(2000) [PubMed] [Europe PMC] [Abstract]

"Phenotype and genotype variation in primary carnitine deficiency."
Wang Y. , Korman S.H. , Ye J. , Gargus J.J. , Gutman A. , Taroni F. , Garavaglia B. , Longo N.
Genet. Med.3:387-392(2001) [PubMed] [Europe PMC] [Abstract]

"Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy."
Makhseed N. , Vallance H.D. , Potter M. , Waters P.J. , Wong L.T.K. , Lillquist Y. , Pasquali M. , Amat di San Filippo C. , Longo N.
J. Inherit. Metab. Dis.27:778-780(2004) [PubMed] [Europe PMC] [Abstract]

"Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene."
Dobrowolski S.F. , McKinney J.T. , Amat di San Filippo C. , Giak Sim K. , Wilcken B. , Longo N.
Hum. Mutat.25:306-313(2005) [PubMed] [Europe PMC] [Abstract]

"Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5)."
Urban T.J. , Gallagher R.C. , Brown C. , Castro R.A. , Lagpacan L.L. , Brett C.M. , Taylor T.R. , Carlson E.J. , Ferrin T.E. , Burchard E.G. , Packman S. , Giacomini K.M.
Mol. Pharmacol.70:1602-1611(2006) [PubMed] [Europe PMC] [Abstract]

"Expanded newborn screening identifies maternal primary carnitine deficiency."
Schimmenti L.A. , Crombez E.A. , Schwahn B.C. , Heese B.A. , Wood T.C. , Schroer R.J. , Bentler K. , Cederbaum S. , Sarafoglou K. , McCann M. , Rinaldo P. , Matern D. , di San Filippo C.A. , Pasquali M. , Berry S.A. , Longo N.
Mol. Genet. Metab.90:441-445(2007) [PubMed] [Europe PMC] [Abstract]

"Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects."
El-Hattab A.W. , Li F.-Y. , Shen J. , Powell B.R. , Bawle E.V. , Adams D.J. , Wahl E. , Kobori J.A. , Graham B. , Scaglia F. , Wong L.-J.
Genet. Med.12:19-24(2010) [PubMed] [Europe PMC] [Abstract]

"Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency."
Li F.-Y. , El-Hattab A.W. , Bawle E.V. , Boles R.G. , Schmitt E.S. , Scaglia F. , Wong L.-J.
Hum. Mutat.31:E1632-E1651(2010) [PubMed] [Europe PMC] [Abstract]

"Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening."
Lee N.-C. , Tang N.-L. , Chien Y.-H. , Chen C.-A. , Lin S.-J. , Chiu P.-C. , Huang A.-C. , Hwu W.-L.
Mol. Genet. Metab.100:46-50(2010) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype correlation in primary carnitine deficiency."
Rose E.C. , di San Filippo C.A. , Ndukwe Erlingsson U.C. , Ardon O. , Pasquali M. , Longo N.
Hum. Mutat.33:118-123(2012) [PubMed] [Europe PMC] [Abstract]