DISEASES

Disease-gene associations mined from literature

Literature associating KCNJ3 and EAST syndrome

KCNJ3 [ENSP00000295101]

G protein-activated inward rectifier potassium channel 1; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ3 subfamily.

Synonyms:  KCNJ3,  KCNJ3p,  hKCNJ3,  A0A494C0M7,  P48549 ...

Linkouts:  STRING  Pharos  UniProt  OMIM