Disease-gene associations mined from literature

Literature associating SLC12A5 and early infantile epileptic encephalopathy 34

SLC12A5 [ENSP00000387694]

Solute carrier family 12 (potassium/chloride transporter), member 5; Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation; Solute carriers

Synonyms:  SLC12A5,  SLC12A5p,  hSLC12A5,  B7Z3I0,  B7Z3T3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM