Disease-gene associations mined from literature

Literature associating KCNJ1 and apparent mineralocorticoid excess syndrome

KCNJ1 [ENSP00000376432]

Potassium inwardly-rectifying channel, subfamily J, member 1; In the kidney, probably plays a major role in potassium homeostasis. 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 channel is activated by internal ATP and can be blocked by external barium; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ1 subfamily.

Synonyms:  KCNJ1,  KCNJ1p,  hKCNJ1,  A0A024R3K6,  P48048 ...

Linkouts:  STRING  Pharos  UniProt  OMIM