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SLC22A5

December 15, 2023

SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins.[5] Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.[6]

SLC22A5
Identifiers
AliasesSLC22A5, CDSP, OCTN2, solute carrier family 22 member 5
External IDsOMIM: 603377 MGI: 1329012 HomoloGene: 68295 GeneCards: SLC22A5
Orthologs
SpeciesHumanMouse
Entrez

6584

20520

Ensembl

ENSG00000197375

ENSMUSG00000018900

UniProt

O76082

Q9Z0E8

RefSeq (mRNA)

NM_001308122
NM_003060

NM_011396
NM_001362711
NM_001362712

RefSeq (protein)

NP_001295051
NP_003051

NP_035526
NP_001349640
NP_001349641

Location (UCSC)Chr 5: 132.37 – 132.4 MbChr 11: 53.76 – 53.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structure edit

The SLC22A5 gene, containing 10 exons,[7] is located on the q arm of chromosome 5 in position 31.1 and spans 25,910 base pair.[5] The gene produces a 63 kDa protein composed of 557 amino acids.[8][9] The protein has 12 putative transmembrane domains, with a long extracellular loop of 107 amino acids between the first two transmembrane domains and an intracellular loop between the fourth and fifth transmembrane domains. This long extracellular loop has three potential sites for N-glycosylation, and the intracellular loop has an ATP/GTP binding motif. In putative intracellular domains, there are five potential sites for protein-kinase C-dependent phosphorylation and one for protein-kinase A-dependent phosphorylation.[10]

Function edit

The SLC22A5 gene codes for a plasma integral membrane protein which functions as both an organic cation transporter and a sodium-dependent high affinity carnitine transporter.[5] The encoded protein is involved in the active cellular uptake of carnitine, transporting one sodium ion with one molecule of carnitine. Organic cations transported by this protein include tetraethylammonium (TEA) without involvement of sodium. The relative uptake activity ratio of carnitine to TEA is 11.3.[11]

Clinical Significance edit

The main phenotypical effect of autosomal recessive mutations, either compound heterozygous or homozygous,[6] in the SLC22A5 gene is systemic primary carnitine deficiency,[7] characterized by impaired carnitine transport, urinary carnitine wasting, low serum carnitine levels, reduced intracellular carnitine accumulation, impaired beta oxidation, and cytosolic fatty acid accumulation.[6] Patients often display metabolic decompensation, hypoketotic hypoglycemia, hepatic encephalopathy, Reye syndrome, and sudden infant death in their first year, followed by the later onset of cardiomyopathy or skeletal myopathy, arrhythmias, muscle weakness, and heart failure in early childhood.[6][12][13] Patients may be asymptomatic, with about 70% of asymptomatic patients having a missense mutation or in-frame deletion; nonsense mutation frequency is increased in symptomatic patients.[14] The symptoms and outcome of the disease can be drastically improved by replacement therapy with L-carnitine.[15] The estimated incidence of primary carnitine deficiency in newborns is about 1 in 40,000.[16]

Interactions edit

SLC22A5 interacts with PDZK1.[11]

See also edit

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197375 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000018900 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: SLC22A5 solute carrier family 22 (organic cation transporter), member 5". Retrieved 2018-07-25.
  6. ^ a b c d 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 (June 2017). "Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death". European Journal of Human Genetics. 25 (6): 783–787. doi:10.1038/ejhg.2017.22. PMC 5477358. PMID 28295041.
  7. ^ a b Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {603377}: {04/29/2015}: . World Wide Web URL: https://omim.org/
  8. ^ 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 (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  9. ^ . Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-07-26. Retrieved 2018-07-25.
  10. ^ Wu X, Prasad PD, Leibach FH, Ganapathy V (May 1998). "cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family". Biochemical and Biophysical Research Communications. 246 (3): 589–95. doi:10.1006/bbrc.1998.8669. PMID 9618255.
  11. ^ a b "SLC22A5 - Solute carrier family 22 member 5 - Homo sapiens (Human) - SLC22A5 gene & protein". www.uniprot.org. Retrieved 2018-07-25.
  12. ^ Yilmaz TF, Atay M, Toprak H, Guler S, Aralasmak A, Alkan A (2014-03-10). "MRI findings in encephalopathy with primary carnitine deficiency: a case report". Journal of Neuroimaging. 25 (2): 325–328. doi:10.1111/jon.12102. PMID 24612242. S2CID 35640542.
  13. ^ Mazzini M, Tadros T, Siwik D, Joseph L, Bristow M, Qin F, Cohen R, Monahan K, Klein M, Colucci W (2011). "Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2". Cardiology. 120 (1): 52–8. doi:10.1159/000333127. PMID 22116472. S2CID 207687571.
  14. ^ Yoon YA, Lee DH, Ki CS, Lee SY, Kim JW, Lee YW, Park HD (2012). "SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation". Annals of Clinical and Laboratory Science. 42 (4): 424–8. PMID 23090741.
  15. ^ Agnetti A, Bitton L, Tchana B, Raymond A, Carano N (January 2013). "Primary carnitine deficiency dilated cardiomyopathy: 28 years follow-up". International Journal of Cardiology. 162 (2): e34–5. doi:10.1016/j.ijcard.2012.05.038. PMID 22658351.
  16. ^ 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 (November 1999). "Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency". Human Molecular Genetics. 8 (12): 2247–54. doi:10.1093/hmg/8.12.2247. PMID 10545605.

Further reading edit

  • Ascunce RR, Nayar AC, Phoon CK, Srichai MB (2013). "Cardiac magnetic resonance findings in a case of carnitine deficiency". Texas Heart Institute Journal. 40 (1): 104–5. PMC 3568278. PMID 23468586.
  • Erguven M, Yilmaz O, Koc S, Caki S, Ayhan Y, Donmez M, Dolunay G (2007). "A case of early diagnosed carnitine deficiency presenting with respiratory symptoms". Annals of Nutrition & Metabolism. 51 (4): 331–4. doi:10.1159/000107675. PMID 17726310. S2CID 40574037.
  • Hwu WL, Chien YH, Tang NL, Law LK, Lin CY, Lee NC (October 2007). "Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency". Journal of Inherited Metabolic Disease. 30 (5): 816. doi:10.1007/s10545-007-0594-y. PMID 17703373. S2CID 2764651.
  • Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N (2004). "Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy". Journal of Inherited Metabolic Disease. 27 (6): 778–80. doi:10.1023/B:BOLI.0000045837.23328.f4. PMID 15617188. S2CID 24144621.
  • Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F (2004). "Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy". European Journal of Paediatric Neurology. 8 (4): 217–9. doi:10.1016/j.ejpn.2004.03.007. PMID 15261886.
  • Kinali M, Olpin SE, Clayton PT, Daubeney PE, Mercuri E, Manzur AY, Tein I, Leonard J, Muntoni F (2004). "Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy". European Journal of Paediatric Neurology. 8 (4): 217–9. doi:10.1016/j.ejpn.2004.03.007. PMID 15261886.
  • Silverberg MS (June 2006). "OCTNs: will the real IBD5 gene please stand up?". World Journal of Gastroenterology. 12 (23): 3678–81. doi:10.3748/wjg.v12.i23.3678. PMC 4087460. PMID 16773684.
  • Matsuishi T, Hirata K, Terasawa K, Kato H, Yoshino M, Ohtaki E, Hirose F, Nonaka I, Sugiyama N, Ohta K (February 1985). "Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy". Neuropediatrics. 16 (1): 6–12. doi:10.1055/s-2008-1052536. PMID 3974805. S2CID 260240244.
  • Wu X, Prasad PD, Leibach FH, Ganapathy V (May 1998). "cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family". Biochemical and Biophysical Research Communications. 246 (3): 589–95. doi:10.1006/bbrc.1998.8669. PMID 9618255.
  • Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G (July 1998). "Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q". American Journal of Human Genetics. 63 (1): 101–8. doi:10.1086/301911. PMC 1377235. PMID 9634512.
  • Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A (August 1998). "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2". The Journal of Biological Chemistry. 273 (32): 20378–82. doi:10.1074/jbc.273.32.20378. PMID 9685390.
  • 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 (January 1999). "Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter". Nature Genetics. 21 (1): 91–4. doi:10.1038/5030. PMID 9916797. S2CID 20723174.
  • Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM (April 1999). "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency". Human Molecular Genetics. 8 (4): 655–60. doi:10.1093/hmg/8.4.655. PMID 10072434.
  • Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW (August 1999). "Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality". Biochemical and Biophysical Research Communications. 261 (2): 484–7. doi:10.1006/bbrc.1999.1060. PMID 10425211.
  • Wu X, Huang W, Prasad PD, Seth P, Rajan DP, Leibach FH, Chen J, Conway SJ, Ganapathy V (September 1999). "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter". The Journal of Pharmacology and Experimental Therapeutics. 290 (3): 1482–92. PMID 10454528.
  • Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ (1999). "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency". Human Genetics. 105 (1–2): 157–61. doi:10.1007/s004390051079. PMID 10480371.
  • 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 (November 1999). "Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency". Human Molecular Genetics. 8 (12): 2247–54. doi:10.1093/hmg/8.12.2247. PMID 10545605.
  • Seth P, Wu X, Huang W, Leibach FH, Ganapathy V (November 1999). "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". The Journal of Biological Chemistry. 274 (47): 33388–92. doi:10.1074/jbc.274.47.33388. PMID 10559218.
  • Mayatepek E, Nezu J, Tamai I, Oku A, Katsura M, Shimane M, Tsuji A (January 2000). "Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency". Human Mutation. 15 (1): 118. doi:10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8. PMID 10612840.
  • Wang Y, Kelly MA, Cowan TM, Longo N (2000). "A missense mutation in the OCTN2 gene associated with residual carnitine transport activity". Human Mutation. 15 (3): 238–45. doi:10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3. PMID 10679939. S2CID 34117262.
  • Ohashi R, Tamai I, Inano A, Katsura M, Sai Y, Nezu J, Tsuji A (September 2002). "Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein". The Journal of Pharmacology and Experimental Therapeutics. 302 (3): 1286–94. doi:10.1124/jpet.102.036004. PMID 12183691. S2CID 1944987.
  • Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS (September 2002). "Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency". Journal of Inherited Metabolic Disease. 25 (5): 363–9. doi:10.1023/A:1020143632011. PMID 12408185. S2CID 25824831.
  • Elimrani I, Lahjouji K, Seidman E, Roy MJ, Mitchell GA, Qureshi I (May 2003). "Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells". American Journal of Physiology. Gastrointestinal and Liver Physiology. 284 (5): G863–71. doi:10.1152/ajpgi.00220.2002. PMID 12684216.
  • Karlic H, Lohninger A, Laschan C, Lapin A, Böhmer F, Huemer M, Guthann E, Rappold E, Pfeilstöcker M (July 2003). "Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes". Journal of Molecular Medicine. 81 (7): 435–42. doi:10.1007/s00109-003-0447-6. PMID 12802501. S2CID 10992930.
  • Amat di San Filippo C, Wang Y, Longo N (November 2003). "Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency". The Journal of Biological Chemistry. 278 (48): 47776–84. doi:10.1074/jbc.M307911200. PMID 14506273.

External links edit

  • SLC22A5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Primary Carnitine Deficiency (OCTN2 database)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

December 15, 2023
slc22a5, membrane, transport, protein, associated, with, primary, carnitine, deficiency, this, protein, involved, active, cellular, uptake, carnitine, acts, symporter, moving, sodium, ions, other, organic, cations, across, membrane, along, with, carnitine, suc. SLC22A5 is a membrane transport protein associated with primary carnitine deficiency This protein is involved in the active cellular uptake of carnitine It acts a symporter moving sodium ions and other organic cations across the membrane along with carnitine Such polyspecific organic cation transporters in the liver kidney intestine and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins 5 Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency which can lead to heart failure 6 SLC22A5IdentifiersAliasesSLC22A5 CDSP OCTN2 solute carrier family 22 member 5External IDsOMIM 603377 MGI 1329012 HomoloGene 68295 GeneCards SLC22A5Gene location Human Chr Chromosome 5 human 1 Band5q31 1Start132 369 710 bp 1 End132 395 613 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 B1 3 11 32 02 cMStart53 755 368 bp 2 End53 782 486 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastrocnemius musclejejunal mucosaright uterine tubekidneytibialis anterior musclerectumkidney tubuleduodenumleft ventriclebody of pancreasTop expressed inkidneyproximal tubuleduodenumspermatocytespermatidbrown adipose tissueadrenal glandjejunumileumlipMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide binding PDZ domain binding transmembrane transporter activity transporter activity protein binding quaternary ammonium group transmembrane transporter activity symporter activity ATP binding xenobiotic transmembrane transporter activity organic anion transmembrane transporter activity carnitine transmembrane transporter activityCellular componentintegral component of membrane membrane plasma membrane integral component of plasma membrane brush border membrane apical plasma membrane extracellular exosomeBiological processsodium ion transport quaternary ammonium group transport ion transport sodium dependent organic cation transport positive regulation of intestinal epithelial structure maintenance carnitine transport carnitine metabolic process xenobiotic transmembrane transport transmembrane transport organic anion transport carnitine transmembrane transport transport xenobiotic transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez658420520EnsemblENSG00000197375ENSMUSG00000018900UniProtO76082Q9Z0E8RefSeq mRNA NM 001308122NM 003060NM 011396NM 001362711NM 001362712RefSeq protein NP 001295051NP 003051NP 035526NP 001349640NP 001349641Location UCSC Chr 5 132 37 132 4 MbChr 11 53 76 53 78 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical Significance 4 Interactions 5 See also 6 References 7 Further reading 8 External linksStructure editThe SLC22A5 gene containing 10 exons 7 is located on the q arm of chromosome 5 in position 31 1 and spans 25 910 base pair 5 The gene produces a 63 kDa protein composed of 557 amino acids 8 9 The protein has 12 putative transmembrane domains with a long extracellular loop of 107 amino acids between the first two transmembrane domains and an intracellular loop between the fourth and fifth transmembrane domains This long extracellular loop has three potential sites for N glycosylation and the intracellular loop has an ATP GTP binding motif In putative intracellular domains there are five potential sites for protein kinase C dependent phosphorylation and one for protein kinase A dependent phosphorylation 10 Function editThe SLC22A5 gene codes for a plasma integral membrane protein which functions as both an organic cation transporter and a sodium dependent high affinity carnitine transporter 5 The encoded protein is involved in the active cellular uptake of carnitine transporting one sodium ion with one molecule of carnitine Organic cations transported by this protein include tetraethylammonium TEA without involvement of sodium The relative uptake activity ratio of carnitine to TEA is 11 3 11 Clinical Significance editThe main phenotypical effect of autosomal recessive mutations either compound heterozygous or homozygous 6 in the SLC22A5 gene is systemic primary carnitine deficiency 7 characterized by impaired carnitine transport urinary carnitine wasting low serum carnitine levels reduced intracellular carnitine accumulation impaired beta oxidation and cytosolic fatty acid accumulation 6 Patients often display metabolic decompensation hypoketotic hypoglycemia hepatic encephalopathy Reye syndrome and sudden infant death in their first year followed by the later onset of cardiomyopathy or skeletal myopathy arrhythmias muscle weakness and heart failure in early childhood 6 12 13 Patients may be asymptomatic with about 70 of asymptomatic patients having a missense mutation or in frame deletion nonsense mutation frequency is increased in symptomatic patients 14 The symptoms and outcome of the disease can be drastically improved by replacement therapy with L carnitine 15 The estimated incidence of primary carnitine deficiency in newborns is about 1 in 40 000 16 Interactions editSLC22A5 interacts with PDZK1 11 See also editSolute carrier familyReferences edit a b c GRCh38 Ensembl release 89 ENSG00000197375 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000018900 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c Entrez Gene SLC22A5 solute carrier family 22 organic cation transporter member 5 Retrieved 2018 07 25 a b c d 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 June 2017 Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death European Journal of Human Genetics 25 6 783 787 doi 10 1038 ejhg 2017 22 PMC 5477358 PMID 28295041 a b Online Mendelian Inheritance in Man OMIM Johns Hopkins University Baltimore MD MIM Number 603377 04 29 2015 World Wide Web URL https omim org 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 October 2013 Integration of cardiac proteome biology and medicine by a specialized knowledgebase Circulation Research 113 9 1043 53 doi 10 1161 CIRCRESAHA 113 301151 PMC 4076475 PMID 23965338 SLC22A5 Solute carrier family 22 member 5 Cardiac Organellar Protein Atlas Knowledgebase COPaKB Archived from the original on 2018 07 26 Retrieved 2018 07 25 Wu X Prasad PD Leibach FH Ganapathy V May 1998 cDNA sequence transport function and genomic organization of human OCTN2 a new member of the organic cation transporter family Biochemical and Biophysical Research Communications 246 3 589 95 doi 10 1006 bbrc 1998 8669 PMID 9618255 a b SLC22A5 Solute carrier family 22 member 5 Homo sapiens Human SLC22A5 gene amp protein www uniprot org Retrieved 2018 07 25 Yilmaz TF Atay M Toprak H Guler S Aralasmak A Alkan A 2014 03 10 MRI findings in encephalopathy with primary carnitine deficiency a case report Journal of Neuroimaging 25 2 325 328 doi 10 1111 jon 12102 PMID 24612242 S2CID 35640542 Mazzini M Tadros T Siwik D Joseph L Bristow M Qin F Cohen R Monahan K Klein M Colucci W 2011 Primary carnitine deficiency and sudden death in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2 Cardiology 120 1 52 8 doi 10 1159 000333127 PMID 22116472 S2CID 207687571 Yoon YA Lee DH Ki CS Lee SY Kim JW Lee YW Park HD 2012 SLC22A5 mutations in a patient with systemic primary carnitine deficiency the first Korean case confirmed by biochemical and molecular investigation Annals of Clinical and Laboratory Science 42 4 424 8 PMID 23090741 Agnetti A Bitton L Tchana B Raymond A Carano N January 2013 Primary carnitine deficiency dilated cardiomyopathy 28 years follow up International Journal of Cardiology 162 2 e34 5 doi 10 1016 j ijcard 2012 05 038 PMID 22658351 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 November 1999 Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency Human Molecular Genetics 8 12 2247 54 doi 10 1093 hmg 8 12 2247 PMID 10545605 Further reading editAscunce RR Nayar AC Phoon CK Srichai MB 2013 Cardiac magnetic resonance findings in a case of carnitine deficiency Texas Heart Institute Journal 40 1 104 5 PMC 3568278 PMID 23468586 Erguven M Yilmaz O Koc S Caki S Ayhan Y Donmez M Dolunay G 2007 A case of early diagnosed carnitine deficiency presenting with respiratory symptoms Annals of Nutrition amp Metabolism 51 4 331 4 doi 10 1159 000107675 PMID 17726310 S2CID 40574037 Hwu WL Chien YH Tang NL Law LK Lin CY Lee NC October 2007 Deficiency of the carnitine transporter OCTN2 with partial N acetylglutamate synthase NAGS deficiency Journal of Inherited Metabolic Disease 30 5 816 doi 10 1007 s10545 007 0594 y PMID 17703373 S2CID 2764651 Makhseed N Vallance HD Potter M Waters PJ Wong LT Lillquist Y Pasquali M Amat di San Filippo C Longo N 2004 Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy Journal of Inherited Metabolic Disease 27 6 778 80 doi 10 1023 B BOLI 0000045837 23328 f4 PMID 15617188 S2CID 24144621 Kinali M Olpin SE Clayton PT Daubeney PE Mercuri E Manzur AY Tein I Leonard J Muntoni F 2004 Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy European Journal of Paediatric Neurology 8 4 217 9 doi 10 1016 j ejpn 2004 03 007 PMID 15261886 Kinali M Olpin SE Clayton PT Daubeney PE Mercuri E Manzur AY Tein I Leonard J Muntoni F 2004 Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy European Journal of Paediatric Neurology 8 4 217 9 doi 10 1016 j ejpn 2004 03 007 PMID 15261886 Silverberg MS June 2006 OCTNs will the real IBD5 gene please stand up World Journal of Gastroenterology 12 23 3678 81 doi 10 3748 wjg v12 i23 3678 PMC 4087460 PMID 16773684 Matsuishi T Hirata K Terasawa K Kato H Yoshino M Ohtaki E Hirose F Nonaka I Sugiyama N Ohta K February 1985 Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy Neuropediatrics 16 1 6 12 doi 10 1055 s 2008 1052536 PMID 3974805 S2CID 260240244 Wu X Prasad PD Leibach FH Ganapathy V May 1998 cDNA sequence transport function and genomic organization of human OCTN2 a new member of the organic cation transporter family Biochemical and Biophysical Research Communications 246 3 589 95 doi 10 1006 bbrc 1998 8669 PMID 9618255 Shoji Y Koizumi A Kayo T Ohata T Takahashi T Harada K Takada G July 1998 Evidence for linkage of human primary systemic carnitine deficiency with D5S436 a novel gene locus on chromosome 5q American Journal of Human Genetics 63 1 101 8 doi 10 1086 301911 PMC 1377235 PMID 9634512 Tamai I Ohashi R Nezu J Yabuuchi H Oku A Shimane M Sai Y Tsuji A August 1998 Molecular and functional identification of sodium ion dependent high affinity human carnitine transporter OCTN2 The Journal of Biological Chemistry 273 32 20378 82 doi 10 1074 jbc 273 32 20378 PMID 9685390 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 January 1999 Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion dependent carnitine transporter Nature Genetics 21 1 91 4 doi 10 1038 5030 PMID 9916797 S2CID 20723174 Tang NL Ganapathy V Wu X Hui J Seth P Yuen PM Wanders RJ Fok TF Hjelm NM April 1999 Mutations of OCTN2 an organic cation carnitine transporter lead to deficient cellular carnitine uptake in primary carnitine deficiency Human Molecular Genetics 8 4 655 60 doi 10 1093 hmg 8 4 655 PMID 10072434 Burwinkel B Kreuder J Schweitzer S Vorgerd M Gempel K Gerbitz KD Kilimann MW August 1999 Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality Biochemical and Biophysical Research Communications 261 2 484 7 doi 10 1006 bbrc 1999 1060 PMID 10425211 Wu X Huang W Prasad PD Seth P Rajan DP Leibach FH Chen J Conway SJ Ganapathy V September 1999 Functional characteristics and tissue distribution pattern of organic cation transporter 2 OCTN2 an organic cation carnitine transporter The Journal of Pharmacology and Experimental Therapeutics 290 3 1482 92 PMID 10454528 Vaz FM Scholte HR Ruiter J Hussaarts Odijk LM Pereira RR Schweitzer S de Klerk JB Waterham HR Wanders RJ 1999 Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency Human Genetics 105 1 2 157 61 doi 10 1007 s004390051079 PMID 10480371 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 November 1999 Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency Human Molecular Genetics 8 12 2247 54 doi 10 1093 hmg 8 12 2247 PMID 10545605 Seth P Wu X Huang W Leibach FH Ganapathy V November 1999 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 The Journal of Biological Chemistry 274 47 33388 92 doi 10 1074 jbc 274 47 33388 PMID 10559218 Mayatepek E Nezu J Tamai I Oku A Katsura M Shimane M Tsuji A January 2000 Two novel missense mutations of the OCTN2 gene W283R and V446F in a patient with primary systemic carnitine deficiency Human Mutation 15 1 118 doi 10 1002 SICI 1098 1004 200001 15 1 lt 118 AID HUMU28 gt 3 0 CO 2 8 PMID 10612840 Wang Y Kelly MA Cowan TM Longo N 2000 A missense mutation in the OCTN2 gene associated with residual carnitine transport activity Human Mutation 15 3 238 45 doi 10 1002 SICI 1098 1004 200003 15 3 lt 238 AID HUMU4 gt 3 0 CO 2 3 PMID 10679939 S2CID 34117262 Ohashi R Tamai I Inano A Katsura M Sai Y Nezu J Tsuji A September 2002 Studies on functional sites of organic cation carnitine transporter OCTN2 SLC22A5 using a Ser467Cys mutant protein The Journal of Pharmacology and Experimental Therapeutics 302 3 1286 94 doi 10 1124 jpet 102 036004 PMID 12183691 S2CID 1944987 Rahbeeni Z Vaz FM Al Hussein K Bucknall MP Ruiter J Wanders RJ Rashed MS September 2002 Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency Journal of Inherited Metabolic Disease 25 5 363 9 doi 10 1023 A 1020143632011 PMID 12408185 S2CID 25824831 Elimrani I Lahjouji K Seidman E Roy MJ Mitchell GA Qureshi I May 2003 Expression and localization of organic cation carnitine transporter OCTN2 in Caco 2 cells American Journal of Physiology Gastrointestinal and Liver Physiology 284 5 G863 71 doi 10 1152 ajpgi 00220 2002 PMID 12684216 Karlic H Lohninger A Laschan C Lapin A Bohmer F Huemer M Guthann E Rappold E Pfeilstocker M July 2003 Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes Journal of Molecular Medicine 81 7 435 42 doi 10 1007 s00109 003 0447 6 PMID 12802501 S2CID 10992930 Amat di San Filippo C Wang Y Longo N November 2003 Functional domains in the carnitine transporter OCTN2 defective in primary carnitine deficiency The Journal of Biological Chemistry 278 48 47776 84 doi 10 1074 jbc M307911200 PMID 14506273 External links editSLC22A5 protein human at the U S National Library of Medicine Medical Subject Headings MeSH Primary Carnitine Deficiency OCTN2 database This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title SLC22A5 amp oldid 1174282004, wikipedia, wiki, book, books, library,

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