SLC6A20: Difference between revisions
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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> |
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> |
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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.<ref>{{Cite journal|last=Ellinghaus|first=David|last2=Degenhardt|first2=Frauke|last3=Bujanda|first3=Luis|last4=Buti|first4=Maria|last5=Albillos|first5=Agustín|last6=Invernizzi|first6=Pietro|last7=Fernández|first7=Javier|last8=Prati|first8=Daniele|last9=Baselli|first9=Guido|last10=Asselta|first10=Rosanna|last11=Grimsrud|first11=Marit M.|date=2020-06-17|title=Genomewide Association Study of Severe Covid-19 with Respiratory Failure|url=https://doi.org/10.1056/NEJMoa2020283|journal=New England Journal of Medicine|volume=0|issue=0|pages=null|doi=10.1056/NEJMoa2020283|issn=0028-4793|pmc=PMC7315890|pmid=32558485}}</ref> |
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== References == |
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{{Reflist}} |
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== CONCLUSIONS == |
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We identified a 3p21.31 gene cluster as a genetic susceptibility locus in patients with Covid-19 with respiratory failure and confirmed a potential involvement of the ABO blood-group system. (Funded by Stein Erik Hagen and others.){{Reflist}} |
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==Further reading== |
==Further reading== |
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Revision as of 19:38, 6 July 2020
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605616 MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.[5][6]
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.[7]
Clinical significance
Mutation in the SLC6A20 gene are associated with iminoglycinuria.[8]
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.[9]
CONCLUSIONS
We identified a 3p21.31 gene cluster as a genetic susceptibility locus in patients with Covid-19 with respiratory failure and confirmed a potential involvement of the ABO blood-group system. (Funded by Stein Erik Hagen and others.)
- ^ a b c GRCh38: Ensembl release 89: ENSG00000163817 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036814 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ "Entrez Gene: ADCY10".
- ^ 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. 118 (12): 3881–92. doi:10.1172/JCI36625. PMC 2579706. PMID 19033659.
- ^ Ellinghaus, David; Degenhardt, Frauke; Bujanda, Luis; Buti, Maria; Albillos, Agustín; Invernizzi, Pietro; Fernández, Javier; Prati, Daniele; Baselli, Guido; Asselta, Rosanna; Grimsrud, Marit M. (2020-06-17). "Genomewide Association Study of Severe Covid-19 with Respiratory Failure". New England Journal of Medicine. 0 (0): null. doi:10.1056/NEJMoa2020283. ISSN 0028-4793. PMC 7315890. PMID 32558485.
{{cite journal}}: CS1 maint: PMC format (link)
Further reading
- 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.
- Nash SR, Giros B, Kingsmore SF, et al. (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.
- Bröer A, Balkrishna S, Kottra G, Davis S, Oakley A, Bröer S (August 2009). "Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)". Mol. Membr. Biol. 26 (5): 333–46. doi:10.1080/09687680903150027. PMID 19657969.
- Bröer S (January 2008). "Amino acid transport across mammalian intestinal and renal epithelia". Physiol. Rev. 88 (1): 249–86. doi:10.1152/physrev.00018.2006. PMID 18195088.
- Takanaga H, Mackenzie B, Suzuki Y, Hediger MA (2005). "Identification of mammalian proline transporter SIT1 (SLC6A20) with characteristics of classical system imino". J. Biol. Chem. 280 (10): 8974–84. doi:10.1074/jbc.M413027200. PMID 15632147.
- Kanei-Ishii C, Nomura T, Tanikawa J, et al. (2004). "Differential sensitivity of v-Myb and c-Myb to Wnt-1-induced protein degradation". J. Biol. Chem. 279 (43): 44582–9. doi:10.1074/jbc.M407831200. PMID 15308626.
- Kiss H, Kedra D, Kiss C, et al. (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.
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