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SLC6A20: Wikis

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solute carrier family 6 (proline IMINO transporter), member 20
Identifiers
Symbol SLC6A20
Alt. symbols XT3, Xtrp3
Entrez 54716
HUGO 30927
OMIM 605616
RefSeq NM_020208
UniProt Q9NP91
Other data
Locus Chr. 3 p21.6

Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[1][2]

Function

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific 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+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.[3]

Clinical significance

Mutation in the SLC6A20 gene are associated with iminoglycinuria.[4]

References

  1. ^ Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG (1998). "Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms". Recept. Channels 6 (2): 113–28. PMID 9932288.  
  2. ^ Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP (April 2001). "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3". Genomics 73 (1): 10–9. doi:10.1006/geno.2000.6498. PMID 11352561.  
  3. ^ "Entrez Gene: ADCY10". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54716.  
  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.  
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