DISEASES

Disease-gene associations mined from literature

Literature associating KCNJ10 and cone-rod dystrophy 8

KCNJ10 [ENSP00000357068]

Potassium inwardly-rectifying channel, subfamily J, member 10; May be responsible for potassium buffering action of glial cells in the brain. 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. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.

Synonyms:  KCNJ10,  KCNJ10p,  hKCNJ10,  P78508,  Q9BXC5 ...

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