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solute carrier family 6, member 18
Identifiers
Symbol SLC6A18
Entrez 348932
HUGO 26441
OMIM 610300
RefSeq NM_182632
UniProt Q96N87
Other data
Locus Chr. 5 p15

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

  1. ^ Strausberg RL, Feingold EA, Grouse LH, et al (December 2002). "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. PMID 12477932.  
  2. ^ a b Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R (October 2005). "The repertoire of solute carriers of family 6: identification of new human and rodent genes". Biochem. Biophys. Res. Commun. 336 (1): 175–89. doi:10.1016/j.bbrc.2005.08.048. PMID 16125675.  
  3. ^ "Entrez Gene: SLC6A18". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=348932.  
  4. ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest.. doi:10.1172/JCI36625. PMID 18989379.  

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

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