SLC22A5

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

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SLC22A5 solute carrier family 22 (organic cation transporter), member 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6584| accessdate = ]

ee also

* Solute carrier family

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Silverberg MS |title=OCTNs: will the real IBD5 gene please stand up? |journal=World J. Gastroenterol. |volume=12 |issue= 23 |pages= 3678–81 |year= 2006 |pmid= 16773684 |doi=
*cite journal | author=Matsuishi T, Hirata K, Terasawa K, "et al." |title=Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. |journal=Neuropediatrics |volume=16 |issue= 1 |pages= 6–12 |year= 1985 |pmid= 3974805 |doi=
*cite journal | author=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=Biochem. Biophys. Res. Commun. |volume=246 |issue= 3 |pages= 589–95 |year= 1998 |pmid= 9618255 |doi= 10.1006/bbrc.1998.8669
*cite journal | author=Shoji Y, Koizumi A, Kayo T, "et al." |title=Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 101–8 |year= 1998 |pmid= 9634512 |doi=
*cite journal | author=Tamai I, Ohashi R, Nezu J, "et al." |title=Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. |journal=J. Biol. Chem. |volume=273 |issue= 32 |pages= 20378–82 |year= 1998 |pmid= 9685390 |doi=
*cite journal | author=Nezu J, Tamai I, Oku A, "et al." |title=Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. |journal=Nat. Genet. |volume=21 |issue= 1 |pages= 91–4 |year= 1999 |pmid= 9916797 |doi= 10.1038/5030
*cite journal | author=Tang NL, Ganapathy V, Wu X, "et al." |title=Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. |journal=Hum. Mol. Genet. |volume=8 |issue= 4 |pages= 655–60 |year= 1999 |pmid= 10072434 |doi=
*cite journal | author=Burwinkel B, Kreuder J, Schweitzer S, "et al." |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=Biochem. Biophys. Res. Commun. |volume=261 |issue= 2 |pages= 484–7 |year= 1999 |pmid= 10425211 |doi= 10.1006/bbrc.1999.1060
*cite journal | author=Wu X, Huang W, Prasad PD, "et al." |title=Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. |journal=J. Pharmacol. Exp. Ther. |volume=290 |issue= 3 |pages= 1482–92 |year= 1999 |pmid= 10454528 |doi=
*cite journal | author=Vaz FM, Scholte HR, Ruiter J, "et al." |title=Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 157–61 |year= 1999 |pmid= 10480371 |doi=
*cite journal | author=Koizumi A, Nozaki J, Ohura T, "et al." |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=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2247–54 |year= 1999 |pmid= 10545605 |doi=
*cite journal | author=Seth P, Wu X, Huang W, "et al." |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=J. Biol. Chem. |volume=274 |issue= 47 |pages= 33388–92 |year= 1999 |pmid= 10559218 |doi=
*cite journal | author=Mayatepek E, Nezu J, Tamai I, "et al." |title=Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. |journal=Hum. Mutat. |volume=15 |issue= 1 |pages= 118 |year= 2000 |pmid= 10612840 |doi= 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8 |doilabel=10.1002/(SICI)1098-1004(200001)15:1118::AID-HUMU283.0.CO;2-8
*cite journal | author=Wang Y, Kelly MA, Cowan TM, Longo N |title=A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. |journal=Hum. Mutat. |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 |doilabel=10.1002/(SICI)1098-1004(200003)15:3238::AID-HUMU43.0.CO;2-3
*cite journal | author=Ohashi R, Tamai I, Inano A, "et al." |title=Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. |journal=J. Pharmacol. Exp. Ther. |volume=302 |issue= 3 |pages= 1286–94 |year= 2002 |pmid= 12183691 |doi= 10.1124/jpet.102.036004
*cite journal | author=Rahbeeni Z, Vaz FM, Al-Hussein K, "et al." |title=Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. |journal=J. Inherit. Metab. Dis. |volume=25 |issue= 5 |pages= 363–9 |year= 2003 |pmid= 12408185 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Elimrani I, Lahjouji K, Seidman E, "et al." |title=Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells. |journal=Am. J. Physiol. Gastrointest. Liver Physiol. |volume=284 |issue= 5 |pages= G863–71 |year= 2003 |pmid= 12684216 |doi= 10.1152/ajpgi.00220.2002
*cite journal | author=Karlic H, Lohninger A, Laschan C, "et al." |title=Downregulation of carnitine acyltransferases and organic cation transporter OCTN2 in mononuclear cells in healthy elderly and patients with myelodysplastic syndromes. |journal=J. Mol. Med. |volume=81 |issue= 7 |pages= 435–42 |year= 2004 |pmid= 12802501 |doi= 10.1007/s00109-003-0447-6
*cite journal | author=Amat di San Filippo C, Wang Y, Longo N |title=Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. |journal=J. Biol. Chem. |volume=278 |issue= 48 |pages= 47776–84 |year= 2004 |pmid= 14506273 |doi= 10.1074/jbc.M307911200

External links

*
* [http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php/ Primary Carnitine Deficiency (OCTN2 database)]

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