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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
which in humans is encoded by the ''SLC22A12''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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'' are IMPs, but not all IMPs are transmembrane proteins. IMPs comprise a sign ...
primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene.
Clinical significance
Numerous
single nucleotide polymorphisms 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&nbs ...
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 thres ...
.
Interactions
SLC22A12 has been shown to
interact
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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 interact with:
* AKAP10,
* CLCN3,
* Cystic fibrosis transmembrane conductance regulator
* FARP ...
.
Inhibition
Lesinurad and
dotinurad 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.
See also
*
Solute carrier family
References
Further reading
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Solute carrier family
Uric acid
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