The solute family 22, member 12 (SLC22A12), is a protein that is encoded by the SLC22A12 gene in humans. It is also known as Urate anion exchanger 1(URAT1). SLC22A12 is an organic anion/cation transporter. The protein encoded by this gene is a urine transporter and urate-anion exchanger that regulates uric acid levels in the blood. This protein is a complete membrane protein found primarily in the kidneys. Two transcripts encoding different isoforms were found for this gene.
Basic Information of SLC22A12 | |
Protein Name | Solute carrier family 22 member 12 |
Gene Name | SLC22A12 |
Aliases | Organic anion transporter 4-like protein, Renal-specific transporter (RST), Urate anion exchanger 1 |
Organism | Homo sapiens (Human) |
UniProt ID | Q96S37 |
Transmembrane Times | 12 |
Length (aa) | 553 |
Sequence | MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF |
SLC22A12 is considered to be responsible for the renal re-absorption of a medically important compound, the transporter of uric acid. Many single nucleotide polymorphisms in this gene are significantly associated with uric acid reabsorption (increased or decreased) in the kidney. These altered rates of resorption can lead to hyperuricemia and hypoxemia. Family renal hypotension is caused by defects in the renal tubular tract. This disorder is mainly caused by a mutation in the gene SLC22A12, which is the encoding of human urate transmitter 1 (URAT1). SLC22A12 affects uric acid reabsorption in the kidneys and regulates the urate content in the blood by promoting saturable urate uptake of organic anion exchange urate.
Fig.1 The structure of SLC22A12 Protein.
These results confirm that SLC22A12 and SLC2A9 variants have no effect on serum uric acid concentration.
The authors demonstrate the gender-dependent size of these URAT1 variants on SUA and imply that URAT1 non-functional variation is a protective genetic factor leading to gout/hyperuricemia.
These findings confirm the geographical and ethnic distribution of the SLC22A12 variant that is prevalent in the Romans, which is a consideration for Asian patients.
This article reveals that there are three SUA-related SNPs in the Caucasus, rs780094 of GCKR, rs1183201 of SLC17A1, and rs505802 of SLC22A12, which have been confirmed to be associated with gouty arthritis and uric acid concentration in Chinese Han males.
This article reports a case of familial renal hypotension, confirmed by SLC22A12 genotype identification, and review related literature.
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