SLC22A5

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Species	Human	Mouse
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SLC22A5 is a membrane transport protein associated with primary carnitine deficiency.

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.

See also

• Solute carrier family

Further reading

• Silverberg MS (2006). "OCTNs: will the real IBD5 gene please stand up?". World J. Gastroenterol. 12 (23): 3678–3681. PMID 16773684.
• Matsuishi T, Hirata K, Terasawa K, et al. (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.
• Wu X, Prasad PD, Leibach FH, Ganapathy V (1998). "cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family". Biochem. Biophys. Res. Commun. 246 (3): 589–95. doi:10.1006/bbrc.1998.8669. PMID 9618255.
• Shoji Y, Koizumi A, Kayo T, et al. (1998). "Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q". Am. J. Hum. Genet. 63 (1): 101–8. doi:10.1086/301911. PMC 1377235. PMID 9634512.
• Tamai I, Ohashi R, Nezu J, et al. (1998). "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2". J. Biol. Chem. 273 (32): 20378–82. doi:10.1074/jbc.273.32.20378. PMID 9685390.
• Nezu J, Tamai I, Oku A, et al. (1999). "Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter". Nat. Genet. 21 (1): 91–4. doi:10.1038/5030. PMID 9916797.
• Tang NL, Ganapathy V, Wu X, et al. (1999). "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency". Hum. Mol. Genet. 8 (4): 655–60. doi:10.1093/hmg/8.4.655. PMID 10072434.
• Burwinkel B, Kreuder J, Schweitzer S, et al. (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". Biochem. Biophys. Res. Commun. 261 (2): 484–7. doi:10.1006/bbrc.1999.1060. PMID 10425211.
• Wu X, Huang W, Prasad PD, et al. (1999). "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter". J. Pharmacol. Exp. Ther. 290 (3): 1482–1492. PMID 10454528.
• Vaz FM, Scholte HR, Ruiter J, et al. (1999). "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency". Hum. Genet. 105 (1–2): 157–61. doi:10.1007/s004390051079. PMID 10480371.
• Koizumi A, Nozaki J, Ohura T, et al. (1999). "Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency". Hum. Mol. Genet. 8 (12): 2247–2254. doi:10.1093/hmg/8.12.2247. PMID 10545605.
• Seth P, Wu X, Huang W, et al. (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". J. Biol. Chem. 274 (47): 33388–92. doi:10.1074/jbc.274.47.33388. PMID 10559218.
• Mayatepek E, Nezu J, Tamai I, et al. (2000). "Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency". Hum. Mutat. 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". Hum. Mutat. 15 (3): 238–45. doi:10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3. PMID 10679939.
• Ohashi R, Tamai I, Inano A, et al. (2002). "Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein". J. Pharmacol. Exp. Ther. 302 (3): 1286–1294. doi:10.1124/jpet.102.036004. PMID 12183691.
• Rahbeeni Z, Vaz FM, Al-Hussein K, et al. (2003). "Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency". J. Inherit. Metab. Dis. 25 (5): 363–9. doi:10.1023/A:1020143632011. PMID 12408185.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Elimrani I, Lahjouji K, Seidman E, et al. (2003). "Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells". Am. J. Physiol. Gastrointest. Liver Physiol. 284 (5): G863–71. doi:10.1152/ajpgi.00220.2002. PMID 12684216.
• Karlic H, Lohninger A, Laschan C, et al. (2004). "Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes". J. Mol. Med. 81 (7): 435–42. doi:10.1007/s00109-003-0447-6. PMID 12802501.
• Amat di San Filippo C, Wang Y, Longo N (2004). "Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency". J. Biol. Chem. 278 (48): 47776–84. doi:10.1074/jbc.M307911200. PMID 14506273.

External links

• SLC22A5+protein,+human at the US 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.