SLC22A12 Antibody

1. The rs475688 polymorphism is associated with gout susceptibility. The correlation between rs3825016 polymorphism of SLC22A12 and hyperuricaemia susceptibility is possible. [Meta-Analysis] PMID: 29352852
2. Human-rat transporter chimeras revealed that human URAT1 serine-35, phenylalanine-365 and isoleucine-481 are necessary and sufficient to provide up to a 100-fold increase in affinity for inhibitors. Moreover, serine-35 and phenylalanine-365 are important for high-affinity interaction with the substrate urate. PMID: 27713539
3. Immunoreactivity of URAT1 was observed on the basolateral side of the cytoplasm of epithelial cells in the choroid plexus. PMID: 28870626
4. A meta-analysis of all gout with Japanese, Caucasian and NZ Polynesian populations revealed that rs2285340 of SLC22A12 and rs1165196 of SLC17A1 showed a significant association but did not reach a genome-wide significance level. PMID: 27899376
5. The common dysfunction allelic variants of URAT1 exist in the general Roma population and thus renal hypouricemia should be kept in differential diagnostic algorithm on Roma patients with defect in renal tubular urate transport. PMID: 27906637
6. novel variants p.R92C and p.R203C associated with renal hypouricemia type 1 PMID: 26500098
7. URAT1 nonfunctional variants are protective genetic factors for gout/hyperuricemia, and also demonstrated the sex-dependent effect size of these URAT1 variants on serum uric acid (P for interaction = 1.5 x 10(-12)). PMID: 26821810
8. c.1245_1253del and c.1400C>T variants present in the Czech and Slovak Roma population at unexpectedly high frequencies PMID: 26033041
9. These results suggest that URAT1 rs3825016 and rs1529909 polymorphisms influence the uricosuric action of losartan PMID: 26086348
10. Depletion of UA due to SLC22A12/URAT1 loss-of-function mutations causes endothelial dysfunction in hypouricemia patients. PMID: 25739858
11. not only loss-of-function mutation of URAT1 but also the dominant-negative effect cause RHUC through loss of UA absorption, partly due to protein misfolding caused by accumulation of URAT1 protein in the endoplasmic reticulum PMID: 26418379
12. Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males. PMID: 26290326
13. There was no significant mutation found in SLC22A12 and SLC2A9 in this familial aggregation of Chinese female premenopausal gout. PMID: 25275768
14. Our study is the first one in Turkish population and suggests that there is no association between primary gout disease and SLC22A12 gene polymorphisms. PMID: 23129426
15. The findings suggest that loss-of-function mutations in URAT1 cause renal hypouricemia via loss of uric acid absorption partly by protein misfolding. PMID: 23386035
16. Our study suggests that the URAT1 rs559946 polymorphism is associated with increased hyperuricemia risk and may also contribute to gout development in Han Chinese men. PMID: 23981340
17. SLC22A12 polymorphisms are associated with obesity and metabolic syndrome in Caucasian hypertensive subjects. PMID: 22688828
18. The strongest association was detected at SLC22A12 rs505802 for genetic loci and uric acid (p=2.4x10(-50)). PMID: 23238572
19. present study confirmed the existence of OAT1-4 and URAT1 in the salivary gland PMID: 22564045
20. Report no association between serum uric acid and MTHFR C677T genotype, after the influences of ABCG2 Q126X and SLC22A12 W258X were removed. PMID: 23544272
21. Genetic analysis detected no mutations in the SLC22A12/URAT1 gene, except for the previously reported silent polymorphisms rs 3825016, 11231825, 1630320, 7932775, and the intronic polymorphism rs 79866595. PMID: 22942308
22. This report identifies a novel loss-of-function URAT1 mutations (c.151delG)which cause renal hypouricemia and renal dysfunction in two independent renal hypouricemia pedigrees. PMID: 23043931
23. The novel G109T polymorphism of the SLC22A12 gene is related to serum uric acid level, but not to the development of metabolic syndrome. PMID: 21544634
24. This data highlights the importance of the URAT1 renal urate transporter in determining serum urate concentrations and the clinical phenotypes. PMID: 22194875
25. we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. PMID: 21768215
26. The SNP of 11G > A in the intron 3 of hURAT1 gene was apparently associated with hyperuricemia in Han Chinese. PMID: 21211204
27. URAT1 mutations cause renal hypouricemia type 1. PMID: 21148271
28. hURAT1 mediated a time- and dose-dependent uptake of orotate (K (m) 5.2 muM). PMID: 21350910
29. two cases with the URAT1 gene, encoded by SLC22A12, found a homozygous mutation in exon 4 PMID: 21722610
30. SLC22A12 258WX was more common among those with a lower serum uric acid concentration; this allele is known to cause hypouricemia PMID: 21614936
31. Although SLC22A12 W258X was a determining genetic factor on SUA, SUA of those with WX genotype distributed widely from 0.8 mg/dL to 7.8 mg/dL. PMID: 21366895
32. polymorphisms of the SLC22A12 gene were associated with primary hyperuricemia PMID: 21154327
33. Single nucleotide polymorphism rs475688 within SLC22A12 gene contributed to the development of gout under the hypothesis of common disease/common variant. PMID: 19762362
34. There are multiple genetic variants within or near hURAT1 that are associated with susceptibility to hyperuricaemia in Han Chinese, including a novel SNP located in intron 3. PMID: 19833602
35. Molecular identification of a renal urate anion exchanger that regulates blood urate levels PMID: 12024214
36. PDZK1 plays a role in regulating the functional activity of URAT1-mediated urate transport in the apical membrane of renal proximal tubules. PMID: 15304510
37. SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese. PMID: 15327384
38. heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A) may be recurrent mutations of the URAT1 gene in a Japanese population PMID: 15772829
39. G774A mutation in SCL22A12 gene serves as a suppressing factor for development of gout. Mutation decreased uric acid levels. PMID: 16059895
40. A single nucleotide polymorphism (SNP) in the urate transporter gene SLC22CA12 was found to be associated with elevated serum uric acid levels PMID: 16920156
41. Report of patients with heterozygous and homozygous mutations in the hURAT1 gene in a family with renal hypouricemia associated with exercise-induced acute renal failure. PMID: 17445045
42. Functioning as an antiporter, hURAT1 mediates the uptake of urate from the lumen into proximal tubule cells in exchange for organic and inorganic anions. PMID: 17891408
43. This study was undertaken to elucidate whether SLC22A12 gene mutations are responsible for low serum uric acid levels in Greek people. No previously reported mutation of URAT1 was associated with primary renal hypouricaemia in Greek subjects. PMID: 17891652
44. is a urate anion exchanger regulating blood urate levels and proposed to be involved in the multimolecular complex "transportsome" that allows the cooperation of multiple transporters. PMID: 18409511
45. The G774A mutation in the SLC22A12 gene encoding URAT1 ( urate anion exchanger 1 ) predominates in Japanese renal hypouricemia. PMID: 18492088
46. losartan inhibited URAT1 and thereby it lowered Sur levels in hypertensive patients. PMID: 18670416
47. polymorphism of the SLC22A12 gene may be involved in renal urate handling and the concentration of serum uric acid PMID: 18824160
48. Serial changes in serum levels of reactive oxygen species and antioxidant potentials were demonstrated after exercise stress testing in a girl with idiopathic renal hypouricemia due to a mutation in SLC22A12. PMID: 18936980
49. Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. PMID: 19019168

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HGNC: 17989

OMIM: 220150

KEGG: hsa:116085

STRING: 9606.ENSP00000366797

UniGene: Hs.174424