Disease-gene associations mined from literature

Literature associating KCNJ13 and Leber congenital amaurosis 16

KCNJ13 [ENSP00000233826]

Inward rectifier potassium channel 13; 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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.

Synonyms:  KCNJ13,  KCNJ13p,  hKCNJ13,  C9JWD6,  H7C4D1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM