The kcnj5 gene encodes an inward rectifier potassium channel protein, functioning as a potassium-selective ion channel that contributes to setting the resting membrane potential and controlling excitab...[+]

The kcnj5 gene encodes an inward rectifier potassium channel protein, functioning as a potassium-selective ion channel that contributes to setting the resting membrane potential and controlling excitability in various cell types. In oocytes, it is involved in membrane repolarization. The protein localizes to the cell membrane. Expression is detected in the pancreas, brain, eye, ear, and pronephros during development. [-]

             long QT syndrome 1
             long QT syndrome 13
             primary hyperaldosteronism

          LONG QT SYNDROME 13; LQT13

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD