Solute carrier family 22 (organic anion/cation transporter), member 12, also known as SLC22A12 and URAT1, is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

which in humans is encoded by the ''SLC22A12''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

The protein encoded by this gene is a

urate Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the formula C5H4N4O3. It forms ions and salts known as urates and acid urates, such as ammonium acid urate. Uric acid is a product of the metabolic breakdown of ...

transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an

integral membrane protein An integral, or intrinsic, membrane protein (IMP) is a type of membrane protein that is permanently attached to the biological membrane. All transmembrane proteins can be classified as IMPs, but not all IMPs are transmembrane proteins. IMPs comp ...

primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.

Clinical significance

Numerous

single nucleotide polymorphism In genetics and bioinformatics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in ...

s of this gene are significantly associated with altered (increased or decreased) reabsorption of uric acid by the kidneys. Respectively, these altered rates of reabsorption contribute to

hyperuricemia Hyperuricaemia or hyperuricemia is an abnormally high level of uric acid in the blood. In the pH conditions of body fluid, uric acid exists largely as urate, the ion form. Serum uric acid concentrations greater than 6 mg/dL for females, 7 ...

and

hypouricemia Hypouricemia or hypouricaemia is a level of uric acid in blood serum that is below normal. In humans, the normal range of this blood component has a lower threshold set variously in the range of 2 mg/dL to 4 mg/dL, while the upper thre ...

Interactions

SLC22A12 has been shown to have a protein-protein interaction with

PDZK1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the ''PDZK1'' gene. Interactions PDZK1 has been shown to Protein-protein interaction, interact with: * AKAP10, * CLCN3, * Cystic fibrosis transmembran ...

Inhibition

Lesinurad, ruzinurad, darbinurad, verinurad, epaminurad, lingdolinurad, xininurad, puliginurad and

dotinurad Dotinurad (Urece) is a drug for the treatment of gout and hyperuricemia. It was drug development, developed by Fuji Yakuhin and approved for use in Japan in 2020. The drug is continuing clinical trials by Fortress Biotech and regulatory evaluati ...

are urate transporter inhibitors that have been approved to treat gout. Lesinurad enhances urate excretion by inhibition the tubular re-absorption.

Probenecid Probenecid, also sold under the brand name Probalan, is a medication that increases uric acid excretion in the urine. It is primarily used in treating gout and hyperuricemia. Probenecid was developed as an alternative to caronamide to competitive ...

also facilitates uric acid secretion.

Function

Clinical significance

Interactions

Inhibition

See also

References

Further reading