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. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201).
Hypokalemic tubulopathy and deafness
HKTD
An autosomal recessive disease characterized by renal tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ16 subfamily.
Widely expressed, with highest levels in adult and fetal kidney (at protein level). In the kidney, expressed in the proximal and distal convoluted tubules, but not in glomeruli nor collecting ducts.
Inward rectifier potassium channel 16, Inward rectifier K(+) channel Kir5.1, KCNJ16
Proteins
Neuroscience
47949Da
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