{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T17:34:13Z","timestamp":1791653653473,"version":"4.3.4"},"reference-count":46,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T00:00:00Z","timestamp":1647907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Grant Agency of Charles University","award":["820120"],"award-info":[{"award-number":["820120"]}]},{"name":"Czech Republic Ministry of Health","award":["RVO 00023728"],"award-info":[{"award-number":["RVO 00023728"]}]},{"name":"Czech Republic Ministry of Health","award":["RVO VFN64165"],"award-info":[{"award-number":["RVO VFN64165"]}]},{"name":"Czech Republic Ministry of Education Youth and Sport","award":["BBMRICZ LM2018125"],"award-info":[{"award-number":["BBMRICZ LM2018125"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>The OAT1 (SLC22A6) and OAT3 (SLC22A8) urate transporters are located on the basolateral membrane of the proximal renal tubules, where they ensure the uptake of uric acid from the urine back into the body. In a cohort of 150 Czech patients with primary hyperuricemia and gout, we examined the coding regions of both genes using PCR amplification and Sanger sequencing. Variants p.P104L (rs11568627) and p.A190T (rs146282438) were identified in the gene for solute carrier family 22 member 6 (SLC22A6) and variants p.R149C (rs45566039), p.V448I (rs11568486) and p.R513Q (rs145474422) in the gene solute carrier family 22 member 8 (SLC22A8). We performed a functional study of these rare non-synonymous variants using the HEK293T cell line. We found that only p.R149C significantly reduced uric acid transport in vitro. Our results could deepen the understanding of uric acid handling in the kidneys and the molecular mechanism of uric acid transport by the OAT family of organic ion transporters.<\/jats:p>","DOI":"10.3390\/cells11071063","type":"journal-article","created":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T14:55:35Z","timestamp":1647960935000},"page":"1063","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Functional Characterization of Rare Variants in OAT1\/SLC22A6 and OAT3\/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort"],"prefix":"10.3390","volume":"11","author":[{"given":"Ji\u0159\u00ed","family":"V\u00e1vra","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Faculty of Science, Charles University, Vinicna 7, 128 43 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Man\u010d\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Staphylococcal and Food-Borne Bacterial Infections, The National Institute of Public Health, \u0160rob\u00e1rova 49\/48, 100 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5379-7282","authenticated-orcid":false,"given":"Kate\u0159ina","family":"Pavelcov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4794-2252","authenticated-orcid":false,"given":"Lenka","family":"Has\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7446-1542","authenticated-orcid":false,"given":"Jana","family":"Bohat\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2465-1476","authenticated-orcid":false,"given":"Blanka","family":"Stib\u016frkov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Rheumatology, Na Slupi 450, 128 00 Prague, Czech Republic"},{"name":"Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 455, 121 00 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/nature742","article-title":"Molecular identification of a renal urate\u2013anion exchanger that regulates blood urate levels","volume":"417","author":"Enomoto","year":"2002","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/ng.106","article-title":"SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout","volume":"40","author":"Vitart","year":"2008","journal-title":"Nat. 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