SLC6A18 explained

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.^[1]

Function

The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions.^{[2] [3]}

Clinical significance

Mutations in the SLC6A18 gene are associated with iminoglycinuria.^[4]

Further reading

• Guey LT, García-Closas M, Murta-Nascimento C, etal . Genetic susceptibility to distinct bladder cancer subphenotypes. . Eur. Urol. . 57 . 2 . 283–92 . 2010 . 19692168 . 10.1016/j.eururo.2009.08.001 . 3220186.
• Eslami B, Kinboshi M, Inoue S, etal . A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. . Tohoku J. Exp. Med. . 208 . 1 . 25–31 . 2006 . 16340170 . 10.1620/tjem.208.25 . free .
• Singer D, Camargo SM, Huggel K, etal . Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3. . J. Biol. Chem. . 284 . 30 . 19953–60 . 2009 . 19478081 . 10.1074/jbc.M109.011171 . 2740421 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Kleta R, Romeo E, Ristic Z, etal . Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. . Nat. Genet. . 36 . 9 . 999–1002 . 2004 . 15286787 . 10.1038/ng1405 . 155361 . free .
• Bröer S . Amino acid transport across mammalian intestinal and renal epithelia. . Physiol. Rev. . 88 . 1 . 249–86 . 2008 . 18195088 . 10.1152/physrev.00018.2006 .
• Yoon YH, Seol SY, Heo J, etal . Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension. . DNA Cell Biol. . 27 . 10 . 559–67 . 2008 . 18554081 . 10.1089/dna.2008.0755 .

Notes and References

1. Strausberg RL, Feingold EA, Grouse LH, etal . 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 . December 2002 . 12477932 . 139241 . 10.1073/pnas.242603899 . 2002PNAS...9916899M . free .
2. Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R . The repertoire of solute carriers of family 6: identification of new human and rodent genes . Biochem. Biophys. Res. Commun. . 336 . 1 . 175–89 . October 2005 . 16125675 . 10.1016/j.bbrc.2005.08.048 .
3. Web site: Entrez Gene: SLC6A18 .
4. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE . Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters . J. Clin. Invest. . 118. 12. 3881–92. November 2008 . 19033659 . 2579706 . 10.1172/JCI36625 .