SLC6A18
| solute carrier family 6, member 18 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | SLC6A18 | ||||||
| NCBI gene | 348932 | ||||||
| HGNC | 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
- ^ Strausberg RL, Feingold EA, Grouse LH; et al. (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. PMC 139241. PMID 12477932.
{{cite journal}}: Explicit use of et al. in:|author=(help); Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ a b Höglund PJ, Adzic D, Scicluna SJ, Lindblom J, Fredriksson R (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: SLC6A18".
- ^ Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE (2008). "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters". J. Clin. Invest. doi:10.1172/JCI36625. PMC 2579706. PMID 18989379.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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