SLC6A20 explained

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]

One of a cluster of 6 genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1) on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure.^[5]

Further reading

• Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG . 6 . Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms . Receptors & Channels . 6 . 2 . 113–28 . 1998 . 9932288 .
• Bröer A, Balkrishna S, Kottra G, Davis S, Oakley A, Bröer S . Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20) . Molecular Membrane Biology . 26 . 5 . 333–46 . August 2009 . 19657969 . 10.1080/09687680903150027 . 21001936 . free .
• Bröer S . Amino acid transport across mammalian intestinal and renal epithelia . Physiological Reviews . 88 . 1 . 249–86 . January 2008 . 18195088 . 10.1152/physrev.00018.2006 .
• Takanaga H, Mackenzie B, Suzuki Y, Hediger MA . Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino . The Journal of Biological Chemistry . 280 . 10 . 8974–84 . March 2005 . 15632147 . 10.1074/jbc.M413027200 . free .
• Kanei-Ishii C, Nomura T, Tanikawa J, Ichikawa-Iwata E, Ishii S . Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation . The Journal of Biological Chemistry . 279 . 43 . 44582–9 . October 2004 . 15308626 . 10.1074/jbc.M407831200 . free .
• Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP . 6 . 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 . April 2001 . 11352561 . 10.1006/geno.2000.6498 .

Notes and References

1. Nash SR, Giros B, Kingsmore SF, Kim KM, el-Mestikawy S, Dong Q, Fumagalli F, Seldin MF, Caron MG . 6 . Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms . Receptors & Channels . 6 . 2 . 113–28 . 1998 . 9932288 .
2. Kiss H, Kedra D, Kiss C, Kost-Alimova M, Yang Y, Klein G, Imreh S, Dumanski JP . 6 . 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 . April 2001 . 11352561 . 10.1006/geno.2000.6498 .
3. Web site: Entrez Gene: ADCY10 .
4. Bröer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE . 6 . Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters . The Journal of Clinical Investigation . 118 . 12 . 3881–92 . December 2008 . 19033659 . 2579706 . 10.1172/JCI36625 .
5. Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, etal . Genomewide Association Study of Severe Covid-19 with Respiratory Failure . The New England Journal of Medicine . June 2020 . 383 . 16 . 1522–1534 . 32558485 . 7315890 . 10.1056/NEJMoa2020283 .