Biology:SLC6A20

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


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]

References

  1. ↑ "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. PMID 9932288. 
  2. ↑ "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. doi:10.1006/geno.2000.6498. PMID 11352561. 
  3. ↑ "Entrez Gene: ADCY10". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54716. 
  4. ↑ "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. doi:10.1172/JCI36625. PMID 19033659. 
  5. ↑ "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". The New England Journal of Medicine 383 (16): 1522–1534. June 2020. doi:10.1056/NEJMoa2020283. PMID 32558485. 

Further reading

  • "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. PMID 9932288. 
  • "Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)". Molecular Membrane Biology 26 (5): 333–46. August 2009. doi:10.1080/09687680903150027. PMID 19657969. 
  • "Amino acid transport across mammalian intestinal and renal epithelia". Physiological Reviews 88 (1): 249–86. January 2008. doi:10.1152/physrev.00018.2006. PMID 18195088. 
  • "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino". The Journal of Biological Chemistry 280 (10): 8974–84. March 2005. doi:10.1074/jbc.M413027200. PMID 15632147. 
  • "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. doi:10.1074/jbc.M407831200. PMID 15308626. 
  • "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. doi:10.1006/geno.2000.6498. PMID 11352561. 



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