Biology:SLC6A18
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.[1][2]
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]
References
- ↑ "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- ↑ 2.0 2.1 "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. doi:10.1016/j.bbrc.2005.08.048. PMID 16125675.
- ↑ "Entrez Gene: SLC6A18". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=348932.
- ↑ "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. doi:10.1172/JCI36625. PMID 19033659.
Further reading
- "Genetic susceptibility to distinct bladder cancer subphenotypes.". Eur. Urol. 57 (2): 283–92. 2010. doi:10.1016/j.eururo.2009.08.001. PMID 19692168.
- "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. doi:10.1620/tjem.208.25. PMID 16340170.
- "Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.". J. Biol. Chem. 284 (30): 19953–60. 2009. doi:10.1074/jbc.M109.011171. PMID 19478081.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.". Nat. Genet. 36 (9): 999–1002. 2004. doi:10.1038/ng1405. PMID 15286787.
- Bröer S (2008). "Amino acid transport across mammalian intestinal and renal epithelia.". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
- "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. doi:10.1089/dna.2008.0755. PMID 18554081.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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