SLC22A12

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Solute carrier family 22 (organic anion/urate transporter), member 12
Identifiers
Symbols SLC22A12 ; OAT4L; RST; URAT1
External IDs OMIM607096 MGI1195269 HomoloGene56442 ChEMBL: 6120 GeneCards: SLC22A12 Gene
Orthologs
Species Human Mouse
Entrez 116085 20521
Ensembl ENSG00000197891 ENSMUSG00000061742
UniProt Q96S37 Q8CFZ5
RefSeq (mRNA) NM_001276326 NM_009203
RefSeq (protein) NP_001263255 NP_033229
Location (UCSC) Chr 11:
64.36 – 64.37 Mb
Chr 19:
6.54 – 6.54 Mb
PubMed search [1] [2]

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[edit]

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[edit]

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.

See also[edit]

Interactions[edit]

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

References[edit]

  1. ^ a b "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, Serge M; Pribanic Sandra, Bacic Desa, Forrer Patrik, Gantenbein Andrea, Sabourin Luc A, Tsuji Akira, Zhao Zhuo-Shen, Manser Edward, Biber Jürg, Murer Heini (Nov 2003). "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney Int. (United States) 64 (5): 1733–45. doi:10.1046/j.1523-1755.2003.00266.x. ISSN 0085-2538. PMID 14531806. 

Further reading[edit]

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