Biology:SLC22A12

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Short description: Mammalian protein found in Homo sapiens


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

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 have a protein-protein interaction with PDZK1.[5]

Inhibition

Lesinurad,Ruzinurad and dotinurad are urate transporter inhibitors that have been approved to treat gout.[6][7] Lesinurad enhances urate excretion by inhibition the tubular re-absorption. Probenecid also facilitates uric acid secretion.[8][9]

See also

References

  1. 1.0 1.1 "Entrez Gene: SLC22A12 solute carrier family 22 (organic anion/cation transporter), member 12". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=116085. 
  2. "Molecular identification of a renal urate anion exchanger that regulates blood urate levels". Nature 417 (6887): 447–52. May 2002. doi:10.1038/nature742. PMID 12024214. Bibcode2002Natur.417..447E. 
  3. "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. January 2006. doi:10.1002/art.21499. PMID 16385546. 
  4. "Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia". J. Clin. Endocrinol. Metab. 90 (4): 2169–74. April 2005. doi:10.1210/jc.2004-1111. PMID 15634722. 
  5. "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. 64 (5): 1733–45. November 2003. 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. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm478791.htm. 
  7. "List of Approved Products". Pharmaceuticals and Medical Devices Agency. https://www.pmda.go.jp/files/000235289.pdf. 
  8. "Interactions of organic anions with the organic cation transporter in renal BBMV". The American Journal of Physiology 254 (1 Pt 2): F56–61. Jan 1988. doi:10.1152/ajprenal.1988.254.1.F56. PMID 2962517. 
  9. "Probenecid, a gout remedy, inhibits pannexin 1 channels". American Journal of Physiology. Cell Physiology 295 (3): C761–7. September 2008. doi:10.1152/ajpcell.00227.2008. PMID 18596212. 

Further reading

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