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SLC6A18

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Identifiers
SymbolsSLC6A18 ; Xtrp2
External IDsOMIM610300 MGI1336892 HomoloGene40785 IUPHAR: 941 GeneCards: SLC6A18 Gene
Orthologs
SpeciesHumanMouse
Entrez34893222598
EnsemblENSG00000164363ENSMUSG00000021612
UniProtQ96N87O88576
RefSeq (mRNA)NM_182632NM_001040692
RefSeq (protein)NP_872438NP_001035782
Location (UCSC)Chr 5:
1.23 – 1.25 Mb
Chr 13:
73.66 – 73.68 Mb
PubMed search[1][2]

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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899. 
  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. PMID 16125675. doi:10.1016/j.bbrc.2005.08.048. 
  3. ^ "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 (November 2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. 118 (12): 3881–92. PMC 2579706. PMID 19033659. doi:10.1172/JCI36625. 

Further reading

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



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