Literature associating SLC12A1 and EAST syndrome
Solute carrier family 12 (sodium/potassium/chloride transporter), member 1; Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume; Belongs to the SLC12A transporter family.
Synonyms: SLC12A1, SLC12A1p, hSLC12A1, H0YLJ2, H0YNW0 ...