SLC6A18
Identifiers
AliasesSLC6A18, Xtrp2, solute carrier family 6 member 18
External IDsOMIM: 610300 MGI: 1336892 HomoloGene: 40785 GeneCards: SLC6A18
Orthologs
SpeciesHumanMouse
Entrez

348932

22598

Ensembl

ENSG00000164363

ENSMUSG00000021612

UniProt

Q96N87

O88576

RefSeq (mRNA)

NM_182632

RefSeq (protein)

NP_872438

Location (UCSC)Chr 5: 1.23 – 1.25 MbChr 13: 73.81 – 73.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.[5][6]

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.[6][7]

Clinical significance

Mutations in the SLC6A18 gene are associated with iminoglycinuria.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164363 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021612 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  6. ^ 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.
  7. ^ "Entrez Gene: SLC6A18".
  8. ^ 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. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.

Further reading

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



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