SLC22A12: Difference between revisions

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{{Infobox gene}}
{{PBB_Controls
'''Solute carrier family 22 (organic anion/cation transporter), member 12''', also known as '''SLC22A12''' and '''URAT1''', is a [[protein]] which in humans is encoded by the ''SLC22A12'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=116085| accessdate = }}</ref><ref name="pmid12024214">{{cite journal | vauthors = Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H | title = Molecular identification of a renal urate anion exchanger that regulates blood urate levels | journal = Nature | volume = 417 | issue = 6887 | pages = 447–52 | date = May 2002 | pmid = 12024214 | doi = 10.1038/nature742 }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
The protein encoded by this gene is a [[uric acid|urate]] transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an [[integral membrane protein]] primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez"/>
| image =
| image_source =
| PDB =  
| Name = Solute carrier family 22 (organic anion/cation transporter), member 12
| HGNCid = 17989
| Symbol = SLC22A12
| AltSymbols =; OAT4L; RST; URAT1
| OMIM = 607096
| ECnumber = 
| Homologene = 56442
| MGIid = 1195269
| Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0015143 |text = urate transmembrane transporter activity}} {{GNF_GO|id=GO:0030165 |text = PDZ domain binding}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0016324 |text = apical plasma membrane}} {{GNF_GO|id=GO:0031526 |text = brush border membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0015747 |text = urate transport}} {{GNF_GO|id=GO:0019725 |text = cell homeostasis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 116085
    | Hs_Ensembl = ENSG00000197891
    | Hs_RefseqProtein = NP_653186
    | Hs_RefseqmRNA = NM_144585
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 64114858
    | Hs_GenLoc_end = 64126396
    | Hs_Uniprot = 
    | Mm_EntrezGene = 20521
    | Mm_Ensembl = ENSMUSG00000061742
    | Mm_RefseqmRNA = NM_009203
    | Mm_RefseqProtein = NP_033229
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 6465196
    | Mm_GenLoc_end = 6543006
    | Mm_Uniprot = 
  }}
}}
'''Solute carrier family 22 (organic anion/cation transporter), member 12''', also known as '''SLC22A12''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=116085| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
==Clinical significance==
{{PBB_Summary
Numerous [[single nucleotide polymorphism]]s of this gene are significantly associated with altered (increased or decreased) reabsorption of uric acid by the kidneys.<ref name="pmid16385546">{{cite journal | vauthors = Graessler J, Graessler A, Unger S, Kopprasch S, Tausche AK, Kuhlisch E, Schroeder HE | title = Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population | journal = Arthritis Rheum. | volume = 54 | issue = 1 | pages = 292–300 | date = January 2006 | pmid = 16385546 | doi = 10.1002/art.21499 }}</ref><ref name="pmid15634722">{{cite journal | vauthors = Wakida N, Tuyen DG, Adachi M, Miyoshi T, Nonoguchi H, Oka T, Ueda O, Tazawa M, Kurihara S, Yoneta Y, Shimada H, Oda T, Kikuchi Y, Matsuo H, Hosoyamada M, Endou H, Otagiri M, Tomita K, Kitamura K | title = Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia | journal = J. Clin. Endocrinol. Metab. | volume = 90 | issue = 4 | pages = 2169–74 | date = April 2005 | pmid = 15634722 | doi = 10.1210/jc.2004-1111 }}</ref> Respectively, these altered rates of reabsorption contribute to [[hyperuricemia]] and [[hypouricemia]].
| section_title =  
| summary_text = The protein encoded by this gene is a urate transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an integral membrane protein primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=116085| accessdate = }}</ref>
}}


==See also==
== Interactions ==
SLC22A12 has been shown to [[Protein-protein interaction|interact]] with [[PDZK1]].<ref name=pmid14531806>{{cite journal | vauthors = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells | journal = Kidney Int. | volume = 64 | issue = 5 | pages = 1733–45 | date = November 2003 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}</ref>
 
== Inhibition ==
[[Lesinurad]] is a urate transporter inhibitor that has been approved to treat gout.<ref name="url_FDA_Zurampict">{{cite web | url = http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm478791.htm | title = FDA approves Zurampic to treat high blood uric acid levels associated with gout | publisher = United States Food and Drug Administration | date =  22 December 2015}}</ref> Lesinurad enhances urate excretion by inhibition the tubular re-absorption. [[Probenecid]] also facilitates uric acid secretion.<ref>{{cite journal | vauthors = Hsyu PH, Gisclon LG, Hui AC, Giacomini KM | title = Interactions of organic anions with the organic cation transporter in renal BBMV | journal = The American Journal of Physiology | volume = 254 | issue = 1 Pt 2 | pages = F56–61 | date = Jan 1988 | pmid = 2962517 }}</ref><ref>{{cite journal | vauthors = Silverman W, Locovei S, Dahl G | title = Probenecid, a gout remedy, inhibits pannexin 1 channels | journal = American Journal of Physiology. Cell Physiology | volume = 295 | issue = 3 | pages = C761–7 | date = September 2008 | pmid = 18596212 | doi = 10.1152/ajpcell.00227.2008 | pmc=2544448}}</ref>
 
== See also ==
* [[Solute carrier family]]
* [[Solute carrier family]]


==References==
== References ==
{{reflist|2}}
{{reflist|33em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Hediger MA, Johnson RJ, Miyazaki H, Endou H | title = Molecular physiology of urate transport. | journal = Physiology | volume = 20 | issue = 2 | pages = 125–33 | year = 2005 | pmid = 15772301 | doi = 10.1152/physiol.00039.2004 }}
| citations =
* {{cite journal | vauthors = Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H | title = Molecular identification of a renal urate anion exchanger that regulates blood urate levels. | journal = Nature | volume = 417 | issue = 6887 | pages = 447–52 | year = 2002 | pmid = 12024214 | doi = 10.1038/nature742 }}
*{{cite journal | author=Hediger MA, Johnson RJ, Miyazaki H, Endou H |title=Molecular physiology of urate transport. |journal=Physiology (Bethesda, Md.) |volume=20 |issue= |pages= 125-33 |year= 2005 |pmid= 15772301 |doi= 10.1152/physiol.00039.2004 }}
* {{cite journal | vauthors = Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H | title = PDZK1: I. a major scaffolder in brush borders of proximal tubular cells. | journal = Kidney Int. | volume = 64 | issue = 5 | pages = 1733–45 | year = 2004 | pmid = 14531806 | doi = 10.1046/j.1523-1755.2003.00266.x }}
*{{cite journal | author=Enomoto A, Kimura H, Chairoungdua A, ''et al.'' |title=Molecular identification of a renal urate anion exchanger that regulates blood urate levels. |journal=Nature |volume=417 |issue= 6887 |pages= 447-52 |year= 2002 |pmid= 12024214 |doi= 10.1038/nature742 }}
* {{cite journal | vauthors = Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T | title = Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | journal = J. Am. Soc. Nephrol. | volume = 15 | issue = 1 | pages = 164–73 | year = 2004 | pmid = 14694169 | doi = 10.1097/01.ASN.0000105320.04395.D0 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin HJ, Enomoto A, Sakamoto S, Hirata T, Tomita K, Kanai Y, Endou H | title = The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus. | journal = J. Biol. Chem. | volume = 279 | issue = 44 | pages = 45942–50 | year = 2004 | pmid = 15304510 | doi = 10.1074/jbc.M406724200 }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
* {{cite journal | vauthors = Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H | title = A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. | journal = Kidney Int. | volume = 66 | issue = 3 | pages = 935–44 | year = 2004 | pmid = 15327384 | doi = 10.1111/j.1523-1755.2004.00839.x }}
*{{cite journal  | author=Gisler SM, Pribanic S, Bacic D, ''et al.'' |title=PDZK1: I. a major scaffolder in brush borders of proximal tubular cells. |journal=Kidney Int. |volume=64 |issue= 5 |pages= 1733-45 |year= 2004 |pmid= 14531806 |doi= 10.1046/j.1523-1755.2003.00266.x }}
* {{cite journal | vauthors = Takahashi T, Tsuchida S, Oyamada T, Ohno T, Miyashita M, Saito S, Komatsu K, Takashina K, Takada G | title = Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese. | journal = Pediatr. Nephrol. | volume = 20 | issue = 5 | pages = 576–8 | year = 2005 | pmid = 15772829 | doi = 10.1007/s00467-005-1830-z }}
*{{cite journal | author=Ichida K, Hosoyamada M, Hisatome I, ''et al.'' |title=Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. |journal=J. Am. Soc. Nephrol. |volume=15 |issue= 1 |pages= 164-73 |year= 2004 |pmid= 14694169 |doi= }}
* {{cite journal | vauthors = Taniguchi A, Urano W, Yamanaka M, Yamanaka H, Hosoyamada M, Endou H, Kamatani N | title = A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout. | journal = Arthritis Rheum. | volume = 52 | issue = 8 | pages = 2576–7 | year = 2005 | pmid = 16059895 | doi = 10.1002/art.21242 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{cite journal | vauthors = Shima Y, Teruya K, Ohta H | title = Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese. | journal = Life Sci. | volume = 79 | issue = 23 | pages = 2234–7 | year = 2006 | pmid = 16920156 | doi = 10.1016/j.lfs.2006.07.030 }}
*{{cite journal | author=Anzai N, Miyazaki H, Noshiro R, ''et al.'' |title=The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus. |journal=J. Biol. Chem. |volume=279 |issue= 44 |pages= 45942-50 |year= 2004 |pmid= 15304510 |doi= 10.1074/jbc.M406724200 }}
* {{cite journal | vauthors = Ohtsuka Y, Zaitsu M, Ichida K, Isomura N, Tsuji K, Sato T, Hamasaki Y | title = Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure. | journal = [[Pediatrics International]] | volume = 49 | issue = 2 | pages = 235–7 | year = 2007 | pmid = 17445045 | doi = 10.1111/j.1442-200X.2007.02337.x }}
*{{cite journal | author=Iwai N, Mino Y, Hosoyamada M, ''et al.'' |title=A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. |journal=Kidney Int. |volume=66 |issue= 3 |pages= 935-44 |year= 2004 |pmid= 15327384 |doi= 10.1111/j.1523-1755.2004.00839.x }}
*{{cite journal | author=Takahashi T, Tsuchida S, Oyamada T, ''et al.'' |title=Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese. |journal=Pediatr. Nephrol. |volume=20 |issue= 5 |pages= 576-8 |year= 2005 |pmid= 15772829 |doi= 10.1007/s00467-005-1830-z }}
*{{cite journal | author=Taniguchi A, Urano W, Yamanaka M, ''et al.'' |title=A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout. |journal=Arthritis Rheum. |volume=52 |issue= 8 |pages= 2576-7 |year= 2005 |pmid= 16059895 |doi= 10.1002/art.21242 }}
*{{cite journal | author=Shima Y, Teruya K, Ohta H |title=Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese. |journal=Life Sci. |volume=79 |issue= 23 |pages= 2234-7 |year= 2006 |pmid= 16920156 |doi= 10.1016/j.lfs.2006.07.030 }}
*{{cite journal | author=Ohtsuka Y, Zaitsu M, Ichida K, ''et al.'' |title=Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure. |journal=Pediatrics international : official journal of the Japan Pediatric Society |volume=49 |issue= 2 |pages= 235-7 |year= 2007 |pmid= 17445045 |doi= 10.1111/j.1442-200X.2007.02337.x }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
{{Use dmy dates|date=April 2017}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
[[Category:Uric acid]]
 
 
{{membrane-protein-stub}}

Latest revision as of 03:57, 15 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Solute carrier family 22 (organic anion/cation transporter), member 12, also known as SLC22A12 and URAT1, is a protein which in humans is encoded by the SLC22A12 gene.[1][2]

Function

The protein encoded by this gene is a urate transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an integral membrane protein primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.[1]

Clinical significance

Numerous single nucleotide polymorphisms of this gene are significantly associated with altered (increased or decreased) reabsorption of uric acid by the kidneys.[3][4] Respectively, these altered rates of reabsorption contribute to hyperuricemia and hypouricemia.

Interactions

SLC22A12 has been shown to interact with PDZK1.[5]

Inhibition

Lesinurad is a urate transporter inhibitor that has been approved to treat gout.[6] Lesinurad enhances urate excretion by inhibition the tubular re-absorption. Probenecid also facilitates uric acid secretion.[7][8]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12".
  2. ↑ Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H (May 2002). "Molecular identification of a renal urate anion exchanger that regulates blood urate levels". Nature. 417 (6887): 447–52. doi:10.1038/nature742. PMID 12024214.
  3. ↑ Graessler J, Graessler A, Unger S, Kopprasch S, Tausche AK, Kuhlisch E, Schroeder HE (January 2006). "Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population". Arthritis Rheum. 54 (1): 292–300. doi:10.1002/art.21499. PMID 16385546.
  4. ↑ Wakida N, Tuyen DG, Adachi M, Miyoshi T, Nonoguchi H, Oka T, Ueda O, Tazawa M, Kurihara S, Yoneta Y, Shimada H, Oda T, Kikuchi Y, Matsuo H, Hosoyamada M, Endou H, Otagiri M, Tomita K, Kitamura K (April 2005). "Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia". J. Clin. Endocrinol. Metab. 90 (4): 2169–74. doi:10.1210/jc.2004-1111. PMID 15634722.
  5. ↑ Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (November 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
  6. ↑ "FDA approves Zurampic to treat high blood uric acid levels associated with gout". United States Food and Drug Administration. 22 December 2015.
  7. ↑ Hsyu PH, Gisclon LG, Hui AC, Giacomini KM (Jan 1988). "Interactions of organic anions with the organic cation transporter in renal BBMV". The American Journal of Physiology. 254 (1 Pt 2): F56–61. PMID 2962517.
  8. ↑ Silverman W, Locovei S, Dahl G (September 2008). "Probenecid, a gout remedy, inhibits pannexin 1 channels". American Journal of Physiology. Cell Physiology. 295 (3): C761–7. doi:10.1152/ajpcell.00227.2008. PMC 2544448. PMID 18596212.

Further reading

  • Hediger MA, Johnson RJ, Miyazaki H, Endou H (2005). "Molecular physiology of urate transport". Physiology. 20 (2): 125–33. doi:10.1152/physiol.00039.2004. PMID 15772301.
  • Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H (2002). "Molecular identification of a renal urate anion exchanger that regulates blood urate levels". Nature. 417 (6887): 447–52. doi:10.1038/nature742. PMID 12024214.
  • Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H (2004). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
  • Ichida K, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H, Hosoya T (2004). "Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion". J. Am. Soc. Nephrol. 15 (1): 164–73. doi:10.1097/01.ASN.0000105320.04395.D0. PMID 14694169.
  • Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin HJ, Enomoto A, Sakamoto S, Hirata T, Tomita K, Kanai Y, Endou H (2004). "The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus". J. Biol. Chem. 279 (44): 45942–50. doi:10.1074/jbc.M406724200. PMID 15304510.
  • Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H (2004). "A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese". Kidney Int. 66 (3): 935–44. doi:10.1111/j.1523-1755.2004.00839.x. PMID 15327384.
  • Takahashi T, Tsuchida S, Oyamada T, Ohno T, Miyashita M, Saito S, Komatsu K, Takashina K, Takada G (2005). "Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese". Pediatr. Nephrol. 20 (5): 576–8. doi:10.1007/s00467-005-1830-z. PMID 15772829.
  • Taniguchi A, Urano W, Yamanaka M, Yamanaka H, Hosoyamada M, Endou H, Kamatani N (2005). "A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout". Arthritis Rheum. 52 (8): 2576–7. doi:10.1002/art.21242. PMID 16059895.
  • Shima Y, Teruya K, Ohta H (2006). "Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese". Life Sci. 79 (23): 2234–7. doi:10.1016/j.lfs.2006.07.030. PMID 16920156.
  • Ohtsuka Y, Zaitsu M, Ichida K, Isomura N, Tsuji K, Sato T, Hamasaki Y (2007). "Human uric acid transporter 1 gene analysis in familial renal hypo-uricemia associated with exercise-induced acute renal failure". Pediatrics International. 49 (2): 235–7. doi:10.1111/j.1442-200X.2007.02337.x. PMID 17445045.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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