Gene: SLC22A12

Alternate names for this Gene: OAT4L|RST|URAT1

Gene Summary: The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: solute carrier family 22 member 12

Type of Gene: protein-coding

rs10897518 in SLC22A12 gene and Arthritis, Gouty PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

rs10897518 in SLC22A12 gene and Gout PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

rs149722479 in SLC22A12 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs1047976958 in SLC22A12 gene and Renal hypouricemia PMID 14694169 2004 Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

PMID 16837472 2007 Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

PMID 26418379 2015 Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

PMID 15327384 2004 A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

PMID 15912381 2005 Mutational analysis of idiopathic renal hypouricemia in Korea.

PMID 15634722 2005 Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.

PMID 12024214 2002 Molecular identification of a renal urate anion exchanger that regulates blood urate levels.

PMID 23525542 2013 We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES.

PMID 19019168 2008 Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.

PMID 14655203 2003 Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.

PMID 18492088 2008 The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.

PMID 15912381 2005 W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.

PMID 15054642 2004 The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.

PMID 16703794 2006 Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.

PMID 21366895 2011 Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.

PMID 15741204 2005 Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation.

PMID 22045201 2012 A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.

PMID 17362586 2007 Rapid detection of R90H mutations in the human urate transporter 1 gene.

PMID 18492088 2008 Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.

rs10897518 in SLC22A12 gene and Uric acid measurement (procedure) PMID 19503597 2009 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

PMID 25811787 2015 Modulation of genetic associations with serum urate levels by body-mass-index in humans.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 21768215 2011 (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.