SLC22A4
The SLC22A4 Gene: Transporting Organic Molecules Across Cell Membranes
Description
The SLC22A4 gene encodes a protein called the organic anion transporter 4 (OAT4), an essential component of the solute carrier family 22 (SLC22). OAT4 is located on the surface of cells within the kidneys and functions as a transporter, facilitating the movement of organic anions (negatively charged molecules) across cell membranes.
Associated Diseases
Mutations in the SLC22A4 gene have been linked to several human diseases, including:
- Kidney stones: Defects in OAT4 can impair the excretion of citrate, a substance that inhibits the formation of kidney stones.
- Gout: OAT4 is responsible for the reabsorption of uric acid in the kidneys. Mutations in the gene can lead to decreased uric acid excretion, resulting in elevated levels in the blood and potentially causing gout.
- Polycystic kidney disease: OAT4 dysfunction has been implicated in the development of polycystic kidney disease, a condition characterized by the formation of fluid-filled cysts in the kidneys.
Did you Know ?
Approximately 1 in 100,000 individuals carries a mutation in the SLC22A4 gene.
