Disease-gene associations mined from literature

Literature associating SLC12A1 and EAST syndrome

SLC12A1 [ENSP00000379822]

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 ...

Linkouts:  STRING  Pharos  UniProt