View source for SLC6A20

{{Infobox_gene}}

'''Solute carrier family 6, member 20''' also known as '''SLC6A20''' is a [[protein]] which in humans is encoded by the ''SLC6A20'' [[gene]].<ref name="pmid9932288">{{cite journal | vauthors = Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG | title = Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms | journal = Recept. Channels | volume = 6 | issue = 2 | pages = 113–28 | year = 1998 | pmid = 9932288 | doi = | url = | issn = }}</ref><ref name="pmid11352561">{{cite journal | vauthors = Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP | title = The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3 | journal = Genomics | volume = 73 | issue = 1 | pages = 10–9 |date=April 2001 | pmid = 11352561 | doi = 10.1006/geno.2000.6498 | url = | issn = }}</ref>

== Function ==

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific [[Membrane transport protein|transporter]] proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na<sup>+</sup> and Cl<sup>−</sup> coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.<ref name="entrez">{{cite web | title = Entrez Gene: ADCY10  | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54716 | accessdate = }}</ref>

== Clinical significance ==

Mutation in the SLC6A20 gene are associated with [[iminoglycinuria]].<ref name="pmid19033659">{{cite journal | vauthors = Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE | title = Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters | journal = J. Clin. Invest. | volume = 118| issue = 12| pages = 3881–92|date=November 2008 | pmid = 19033659 | pmc = 2579706 | doi = 10.1172/JCI36625 | url = | issn = }}</ref>

== References ==
{{Reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899  |pmc=139241 }}
*{{cite journal   |vauthors=Nash SR, Giros B, Kingsmore SF, etal |title=Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms. |journal=Recept. Channels |volume=6 |issue= 2 |pages= 113–28 |year= 1998 |pmid= 9932288 |doi=  }}
*{{cite journal | vauthors = Bröer A, Balkrishna S, Kottra G, Davis S, Oakley A, Bröer S | title = Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20) | journal = Mol. Membr. Biol. | volume = 26 | issue = 5 | pages = 333–46 |date=August 2009 | pmid = 19657969 | doi = 10.1080/09687680903150027 | url = | issn = }}
*{{cite journal | author = Bröer S | title = Amino acid transport across mammalian intestinal and renal epithelia | journal = Physiol. Rev. | volume = 88 | issue = 1 | pages = 249–86 |date=January 2008 | pmid = 18195088 | doi = 10.1152/physrev.00018.2006 | url = | issn = }}
*{{cite journal  |vauthors=Takanaga H, Mackenzie B, Suzuki Y, Hediger MA |title=Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino. |journal=J. Biol. Chem. |volume=280 |issue= 10 |pages= 8974–84 |year= 2005 |pmid= 15632147 |doi= 10.1074/jbc.M413027200 }}
*{{cite journal   |vauthors=Kanei-Ishii C, Nomura T, Tanikawa J, etal |title=Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation. |journal=J. Biol. Chem. |volume=279 |issue= 43 |pages= 44582–9 |year= 2004 |pmid= 15308626 |doi= 10.1074/jbc.M407831200 }}
*{{cite journal   |vauthors=Kiss H, Kedra D, Kiss C, etal |title=The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3. |journal=Genomics |volume=73 |issue= 1 |pages= 10–9 |year= 2001 |pmid= 11352561 |doi= 10.1006/geno.2000.6498 }}
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{{Membrane transport proteins}}


{{gene-3-stub}}