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{{Infokutija gen}}
'''SLC22A5''' je  [[membranski transportni protein]] pridružen  [[primarni nedostatak karnitina|primarnom nedostatku karnitina]]. To jest [[protein]] koji je kod [[ljudi]] [[kodon|kodiran]] [[gen]]om '''SLC22A5''' sa [[hromosom 5|hromosoma 5]].
Ovaj protein je uključen u aktivno ćelijsko preuzimanje [[karnitin]]a. Djeluje kao [[simporter]], pomičući natrijeve [[ion]]e  i druge organske [[katikon]]e preko [[ćelijska membrana|membrane]],  zajedno s karnitinom. Takvi polispecifični [[proteini organskog kationskog transporta|organski kationski transporteri]] u [[jetra|jetri]], [[bubrezi]]ma, [[crijeva|crijevima]] i drugim [[organ]]ima kritični su za uklanjanje mnogih [[endogen]]ih malih organskih kationa, kao i širokog spektra lijekova i [[toksin]]a iz okoliša.<ref name ="entrez"/> [[Mutacije]] u genu '' SLC22A5 '' uzrokuju [[sistemski primarni nedostatak karnitina]], što može dovesti do [[zatajenje srca|zatajenja srca]].<ref name=":2"/>

==Aminokiselinska sekvenca==
Dužina [[polipeptid]]nog lanca je 557  [[aminokiselina]], а [[molekularna masa|molekulska težina]]  62.752 [[dalton (jedinica)|Da]].<ref name="UniProt">{{cite web|url=http://www.uniprot.org/uniprot/O76082#sequences |title=UniProt, O76082 |language=en |access-date=20. 10. 2021}}</ref>
{{legenda aminokiselina}}
<table  style="font-family:monospace;">
<tr style="text-align:right;"><th>10</th><th></th><th>20</th><th></th><th>30</th><th></th><th>40</th><th></th><th>50</th></tr>
<tr style="background-color: #eee;"><td>MRDYDEVTAF</td><td style="background-color: #f9f9f9;"></td><td>LGEWGPFQRL</td><td style="background-color: #f9f9f9;"></td><td>IFFLLSASII</td><td style="background-color: #f9f9f9;"></td><td>PNGFTGLSSV</td><td style="background-color: #f9f9f9;"></td><td>FLIATPEHRC</td></tr>
<tr style="background-color: #eee;"><td>RVPDAANLSS</td><td style="background-color: #f9f9f9;"></td><td>AWRNHTVPLR</td><td style="background-color: #f9f9f9;"></td><td>LRDGREVPHS</td><td style="background-color: #f9f9f9;"></td><td>CRRYRLATIA</td><td style="background-color: #f9f9f9;"></td><td>NFSALGLEPG</td></tr>
<tr style="background-color: #eee;"><td>RDVDLGQLEQ</td><td style="background-color: #f9f9f9;"></td><td>ESCLDGWEFS</td><td style="background-color: #f9f9f9;"></td><td>QDVYLSTIVT</td><td style="background-color: #f9f9f9;"></td><td>EWNLVCEDDW</td><td style="background-color: #f9f9f9;"></td><td>KAPLTISLFF</td></tr>
<tr style="background-color: #eee;"><td>VGVLLGSFIS</td><td style="background-color: #f9f9f9;"></td><td>GQLSDRFGRK</td><td style="background-color: #f9f9f9;"></td><td>NVLFVTMGMQ</td><td style="background-color: #f9f9f9;"></td><td>TGFSFLQIFS</td><td style="background-color: #f9f9f9;"></td><td>KNFEMFVVLF</td></tr>
<tr style="background-color: #eee;"><td>VLVGMGQISN</td><td style="background-color: #f9f9f9;"></td><td>YVAAFVLGTE</td><td style="background-color: #f9f9f9;"></td><td>ILGKSVRIIF</td><td style="background-color: #f9f9f9;"></td><td>STLGVCIFYA</td><td style="background-color: #f9f9f9;"></td><td>FGYMVLPLFA</td></tr>
<tr style="background-color: #eee;"><td>YFIRDWRMLL</td><td style="background-color: #f9f9f9;"></td><td>VALTMPGVLC</td><td style="background-color: #f9f9f9;"></td><td>VALWWFIPES</td><td style="background-color: #f9f9f9;"></td><td>PRWLISQGRF</td><td style="background-color: #f9f9f9;"></td><td>EEAEVIIRKA</td></tr>
<tr style="background-color: #eee;"><td>AKANGIVVPS</td><td style="background-color: #f9f9f9;"></td><td>TIFDPSELQD</td><td style="background-color: #f9f9f9;"></td><td>LSSKKQQSHN</td><td style="background-color: #f9f9f9;"></td><td>ILDLLRTWNI</td><td style="background-color: #f9f9f9;"></td><td>RMVTIMSIML</td></tr>
<tr style="background-color: #eee;"><td>WMTISVGYFG</td><td style="background-color: #f9f9f9;"></td><td>LSLDTPNLHG</td><td style="background-color: #f9f9f9;"></td><td>DIFVNCFLSA</td><td style="background-color: #f9f9f9;"></td><td>MVEVPAYVLA</td><td style="background-color: #f9f9f9;"></td><td>WLLLQYLPRR</td></tr>
<tr style="background-color: #eee;"><td>YSMATALFLG</td><td style="background-color: #f9f9f9;"></td><td>GSVLLFMQLV</td><td style="background-color: #f9f9f9;"></td><td>PPDLYYLATV</td><td style="background-color: #f9f9f9;"></td><td>LVMVGKFGVT</td><td style="background-color: #f9f9f9;"></td><td>AAFSMVYVYT</td></tr>
<tr style="background-color: #eee;"><td>AELYPTVVRN</td><td style="background-color: #f9f9f9;"></td><td>MGVGVSSTAS</td><td style="background-color: #f9f9f9;"></td><td>RLGSILSPYF</td><td style="background-color: #f9f9f9;"></td><td>VYLGAYDRFL</td><td style="background-color: #f9f9f9;"></td><td>PYILMGSLTI</td></tr>
<tr style="background-color: #eee;"><td>LTAILTLFLP</td><td style="background-color: #f9f9f9;"></td><td>ESFGTPLPDT</td><td style="background-color: #f9f9f9;"></td><td>IDQMLRVKGM</td><td style="background-color: #f9f9f9;"></td><td>KHRKTPSHTR</td><td style="background-color: #f9f9f9;"></td><td>MLKDGQERPT</td></tr>
<tr style="background-color: #eee;"><td>ILKSTAF</td></tr>
</table>

== Struktura ==
Gen ''SLC22A5'' ima 10 [[egzon]]a,<ref name=":0">Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {603377}: {04/29/2015}: . World Wide Web URL: https://omim.org/</ref> nalazi se na q kraku [[hromosom 5|hromosoma 5]] u poziciji 31.1 i obuhvata 25.910 parova baza.<ref name = "entrez"/> Gen proizvodi protein od 63 kDa sa 557 [[aminokiselina]].<ref name="COPaKB">{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = oktobar 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}</ref><ref name="url_COPaKB">{{cite web | url = https://amino.heartproteome.org/web/protein/O76082 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = SLC22A5 - Solute carrier family 22 member 5 | access-date = 20. 10. 2021 | archive-date = 26. 7. 2018 | archive-url = https://web.archive.org/web/20180726040930/https://amino.heartproteome.org/web/protein/O76082 | url-status = dead }}</ref> Protein ima 12 pretpostavljenih [[transmembranski domen|transmembranskih domena]], sa dugom vanćelijskom petljom od 107 aminokiselina, između prve dva transmembranska domena i unutarćelijskom petljom između četvrtog i petog transmembranskog domena. Ova duga vanćelijska petlja ima tri potencijalna mjesta za [[glikozilacija|N-glikozilaciju]], a unutarćelijska petlja ima [[ATP-vezujući motiv|ATP/GTP vezujući motiv]]. U pretpostavljenim unutarćelijskim domenima postoji pet potencijalnih mjesta za [[fosforilacija|fosforilaciju]] [[Protein kinaza C|ovisne o protein-kinazi C]] i jedno za [[Protein-kinaza A|fosforilaciju ovisnu o protein-kinazi A]].<ref>{{cite journal | vauthors = Wu X, Prasad PD, Leibach FH, Ganapathy V | title = cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family | journal = Biochemical and Biophysical Research Communications | volume = 246 | issue = 3 | pages = 589–95 | date = maj 1998 | pmid = 9618255 | doi = 10.1006/bbrc.1998.8669 }}</ref>

== Funkcija ==
Gen ''SLC22A5'' kodira plazmatski [[integralni membranski protein]] koji funkcionira i kao transporter organskih kationa i transporter visokog afiniteta [[karnitin]]a ovisnog o [[natrij]]u.<ref name="entrez">{{cite web | title = Entrez Gene: SLC22A5 solute carrier family 22 (organic cation transporter), member 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6584| access-date =25. 7. 2018}}</ref>  Kodirani protein uključen je u [[aktivni transport|aktivno ćelijsko]] preuzimanje karnitina, prenoseći jedan natrijev  ion s jednom molekulom karnitina. Organski kationi koji se prenose ovim proteinom uključuju [[tetraetilamonij]] (TEA) bez uključivanja natrija. Odnos relativne aktivnosti preuzimanja karnitina i TEA je 11,3.<ref name=":1">{{Cite web|url=https://www.uniprot.org/uniprot/O76082|title=SLC22A5 - Solute carrier family 22 member 5 - Homo sapiens (Human) - SLC22A5 gene & protein|website=www.uniprot.org|language=en|access-date=25. 7. 2018}}</ref>

== Klinički značaj ==
Glavni [[fenotip]]ski učinak [[autosomno nasljeđivanje|autosomno recesivnih]] [[mutacija]], bilo [[heterozigot|složena heterozigotna]] ili [[homozigot]]na,<ref name=":2">{{cite journal | vauthors = Lahrouchi N, Lodder EM, Mansouri M, Tadros R, Zniber L, Adadi N, Clur SB, van Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR | title = Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death | journal = European Journal of Human Genetics | volume = 25 | issue = 6 | pages = 783–787 | date = juni 2017 | pmid = 28295041 | pmc = 5477358 | doi = 10.1038/ejhg.2017.22 }}</ref> u genu ''SLC22A5'' je [[sistemski primarni nedostatak karnitina]],<ref name=":0"/> karakterizirana je smanjenim transportom karnitina, gubitkom karnitina u urinu, niskim koncentracijama karnitina u serumu, smanjenom unutarćelijskom akumulacijom karnitina, smanjenom [[beta-oksidacija|beta-oksidacijom]] i [[citosol]]nim [[masne kiseline|masnimm kiselinama]].<ref name=":2"/> Pacijenti često pokazuju metaboličku dekompenzaciju, [[Nedostatak karnitin-acilkarnitin translokaze|hipoketonsku hipoglikemija]], [[jetrena encefalopatija|jetrenu encefalopatiju]], [[Reyeov sindrom]] i [[Sindrom iznenadne smrti dojenčadi|iznenadnu smrt novorođenčadi]] u prvoj godini, nakon čega jeslijedi kasniji početak [[kardiomiopatija]] ili [[Skeletni mišić|skeletnih]] [[miopatija]], [[Srčana aritmija|aritmije]], slabost mišića i [[zatajenje srca]] u ranom djetinjstvu.<ref name=":2" /><ref>{{cite journal | vauthors = Yilmaz TF, Atay M, Toprak H, Guler S, Aralasmak A, Alkan A | title = MRI findings in encephalopathy with primary carnitine deficiency: a case report | journal = Journal of Neuroimaging | volume = 25 | issue = 2 | pages = 325–328 | date = 10. 3. 2014 | pmid = 24612242 | doi = 10.1111/jon.12102 | s2cid = 35640542 }}</ref><ref name=":3">{{cite journal | vauthors = Mazzini M, Tadros T, Siwik D, Joseph L, Bristow M, Qin F, Cohen R, Monahan K, Klein M, Colucci W | title = Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2 | language = en | journal = Cardiology | volume = 120 | issue = 1 | pages = 52–8 | date = 2011 | pmid = 22116472 | doi = 10.1159/000333127 | s2cid = 207687571 }}</ref>

Pacijenti mogu biti a[[simptom]]ski, pri čemu oko 70% takvih pacijenata ima [[misens mutacije]] ili [[delecija (genetika)|delecije]]; učestalost [[nonsens mutacija]] je povećana kod simptomskih pacijenata.<ref>{{cite journal | vauthors = Yoon YA, Lee DH, Ki CS, Lee SY, Kim JW, Lee YW, Park HD | title = SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation | journal = Annals of Clinical and Laboratory Science | volume = 42 | issue = 4 | pages = 424–8 | date = 2012 | pmid = 23090741 }}</ref> Simptomi i ishod bolesti mogu se drastično poboljšati zamjenskom terapijom, uzimanjem  L-[[karnitin]]a.<ref>{{cite journal | vauthors = Agnetti A, Bitton L, Tchana B, Raymond A, Carano N | title = Primary carnitine deficiency dilated cardiomyopathy: 28 years follow-up | journal = International Journal of Cardiology | volume = 162 | issue = 2 | pages = e34–5 | date = januar 2013 | pmid = 22658351 | doi = 10.1016/j.ijcard.2012.05.038 }}</ref> Procijenjena incidencija primarnog nedostatka karnitina u novorođenčadi je oko 1/40.000.<ref>{{cite journal | vauthors = 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 | title = Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency | journal = Human Molecular Genetics | volume = 8 | issue = 12 | pages = 2247–54 | date = novembar 1999 | pmid = 10545605 | doi = 10.1093/hmg/8.12.2247 | doi-access = free }}</ref>

== Interakcije ==
SLC22A5 ima [[Interakcija protein-protein|interakcije]] sa [[PDZK1]].<ref name=":1" />

== Također pogledajte==
* [[Rastvorni nosač]]

== References ==
{{reflist}}

== Dopunska literatura ==
{{refbegin }}
* {{cite journal | vauthors = Ascunce RR, Nayar AC, Phoon CK, Srichai MB | title = Cardiac magnetic resonance findings in a case of carnitine deficiency | journal = Texas Heart Institute Journal | volume = 40 | issue = 1 | pages = 104–5 | date = 2013 | pmid = 23468586 | pmc = 3568278 }}
* {{cite journal | vauthors = Erguven M, Yilmaz O, Koc S, Caki S, Ayhan Y, Donmez M, Dolunay G | title = A case of early diagnosed carnitine deficiency presenting with respiratory symptoms | journal = Annals of Nutrition & Metabolism | volume = 51 | issue = 4 | pages = 331–4 | date = 2007 | pmid = 17726310 | doi = 10.1159/000107675 | s2cid = 40574037 }}
* {{cite journal | vauthors = Hwu WL, Chien YH, Tang NL, Law LK, Lin CY, Lee NC | title = Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency | journal = Journal of Inherited Metabolic Disease | volume = 30 | issue = 5 | pages = 816 | date = oktobar 2007 | pmid = 17703373 | doi = 10.1007/s10545-007-0594-y | s2cid = 2764651 }}
* {{cite journal | vauthors = Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N | title = Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy | journal = Journal of Inherited Metabolic Disease | volume = 27 | issue = 6 | pages = 778–80 | date = 2004 | pmid = 15617188 | doi = 10.1023/B:BOLI.0000045837.23328.f4 | s2cid = 24144621 }}
* {{cite journal | vauthors = Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F | title = Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy | journal = European Journal of Paediatric Neurology | volume = 8 | issue = 4 | pages = 217–9 | date = 2004 | pmid = 15261886 | doi = 10.1016/j.ejpn.2004.03.007 }}
* {{cite journal | vauthors = Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F | title = Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy | journal = European Journal of Paediatric Neurology | volume = 8 | issue = 4 | pages = 217–9 | date = 2004 | pmid = 15261886 | doi = 10.1016/j.ejpn.2004.03.007 }}
* {{cite journal | vauthors = Silverberg MS | title = OCTNs: will the real IBD5 gene please stand up? | journal = World Journal of Gastroenterology | volume = 12 | issue = 23 | pages = 3678–81 | date = juni 2006 | pmid = 16773684 | pmc = 4087460 | doi = 10.3748/wjg.v12.i23.3678 }}
* {{cite journal | vauthors = Matsuishi T, Hirata K, Terasawa K, Kato H, Yoshino M, Ohtaki E, Hirose F, Nonaka I, Sugiyama N, Ohta K | title = Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy | journal = Neuropediatrics | volume = 16 | issue = 1 | pages = 6–12 | date = februar 1985 | pmid = 3974805 | doi = 10.1055/s-2008-1052536 }}
* {{cite journal | vauthors = Wu X, Prasad PD, Leibach FH, Ganapathy V | title = cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family | journal = Biochemical and Biophysical Research Communications | volume = 246 | issue = 3 | pages = 589–95 | date = maj 1998 | pmid = 9618255 | doi = 10.1006/bbrc.1998.8669 }}
* {{cite journal | vauthors = Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G | title = Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q | journal = American Journal of Human Genetics | volume = 63 | issue = 1 | pages = 101–8 | date = juli 1998 | pmid = 9634512 | pmc = 1377235 | doi = 10.1086/301911 }}
* {{cite journal | vauthors = Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A | title = Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2 | journal = The Journal of Biological Chemistry | volume = 273 | issue = 32 | pages = 20378–82 | date = august 1998 | pmid = 9685390 | doi = 10.1074/jbc.273.32.20378 | doi-access = free }}
* {{cite journal | vauthors = 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 | title = Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter | journal = Nature Genetics | volume = 21 | issue = 1 | pages = 91–4 | date = januar 1999 | pmid = 9916797 | doi = 10.1038/5030 | s2cid = 20723174 }}
* {{cite journal | vauthors = Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM | title = Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency | journal = Human Molecular Genetics | volume = 8 | issue = 4 | pages = 655–60 | date = april 1999 | pmid = 10072434 | doi = 10.1093/hmg/8.4.655 | doi-access = free }}
* {{cite journal | vauthors = Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW | title = Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality | journal = Biochemical and Biophysical Research Communications | volume = 261 | issue = 2 | pages = 484–7 | date = august 1999 | pmid = 10425211 | doi = 10.1006/bbrc.1999.1060 }}
* {{cite journal | vauthors = Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V | title = Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter | journal = The Journal of Pharmacology and Experimental Therapeutics | volume = 290 | issue = 3 | pages = 1482–92 | date = septembar 1999 | pmid = 10454528 }}
* {{cite journal | vauthors = Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ | title = Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency | journal = Human Genetics | volume = 105 | issue = 1–2 | pages = 157–61 | year = 1999 | pmid = 10480371 | doi = 10.1007/s004390051079 }}
* {{cite journal | vauthors = 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 | title = Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency | journal = Human Molecular Genetics | volume = 8 | issue = 12 | pages = 2247–54 | date = novembar 1999 | pmid = 10545605 | doi = 10.1093/hmg/8.12.2247 | doi-access = free }}
* {{cite journal | vauthors = Seth P, Wu X, Huang W, Leibach FH, Ganapathy V | title = 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 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 47 | pages = 33388–92 | date = novembar 1999 | pmid = 10559218 | doi = 10.1074/jbc.274.47.33388 | doi-access = free }}
* {{cite journal | vauthors = Mayatepek E, Nezu J, Tamai I, Oku A, Katsura M, Shimane M, Tsuji A | title = Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency | journal = Human Mutation | volume = 15 | issue = 1 | pages = 118 | date = januar 2000 | pmid = 10612840 | doi = 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 | doi-access = free }}
* {{cite journal | vauthors = Wang Y, Kelly MA, Cowan TM, Longo N | title = A missense mutation in the OCTN2 gene associated with residual carnitine transport activity | journal = Human Mutation | volume = 15 | issue = 3 | pages = 238–45 | year = 2000 | pmid = 10679939 | doi = 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3 }}
* {{cite journal | vauthors = Ohashi R, Tamai I, Inano A, Katsura M, Sai Y, Nezu J, Tsuji A | title = Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein | journal = The Journal of Pharmacology and Experimental Therapeutics | volume = 302 | issue = 3 | pages = 1286–94 | date = septembar 2002 | pmid = 12183691 | doi = 10.1124/jpet.102.036004 | s2cid = 1944987 }}
* {{cite journal | vauthors = Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS | title = Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency | journal = Journal of Inherited Metabolic Disease | volume = 25 | issue = 5 | pages = 363–9 | date = septembar 2002 | pmid = 12408185 | doi = 10.1023/A:1020143632011 | s2cid = 25824831 }}
* {{cite journal | vauthors = Elimrani I, Lahjouji K, Seidman E, Roy MJ, Mitchell GA, Qureshi I | title = Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 284 | issue = 5 | pages = G863–71 | date = maj 2003 | pmid = 12684216 | doi = 10.1152/ajpgi.00220.2002 }}
* {{cite journal | vauthors = Karlic H, Lohninger A, Laschan C, Lapin A, Böhmer F, Huemer M, Guthann E, Rappold E, Pfeilstöcker M | title = Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes | journal = Journal of Molecular Medicine | volume = 81 | issue = 7 | pages = 435–42 | date = juli 2003 | pmid = 12802501 | doi = 10.1007/s00109-003-0447-6 | s2cid = 10992930 }}
* {{cite journal | vauthors = Amat di San Filippo C, Wang Y, Longo N | title = Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency | journal = The Journal of Biological Chemistry | volume = 278 | issue = 48 | pages = 47776–84 | date = novembar 2003 | pmid = 14506273 | doi = 10.1074/jbc.M307911200 | doi-access = free }}
{{refend}}

== Vanjski linkovi ==
* {{MeshName|SLC22A5+protein,+human}}
* [http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php/ Primary Carnitine Deficiency (OCTN2 database)]

{{NLM content}}
{{Membranski transportni proteini}}

[[Kategorija:Porodica rastvornih nosača]]
[[Kategorija:Amfetamin]]
[[Kategorija:Geni na hromosomu 5]]
[[Kategorija:Ljudski proteini]]
[[Kategorija:Proteomika]]

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Nazad na SLC22A5.

Preuzeto iz "https://bs.wikipedia.org/wiki/SLC22A5"