KCNJ10
Function
May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). 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 (PubMed:8995301). The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (PubMed:8995301). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201).
Involvement in disease
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
SESAMES
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.
Tissue Specificity
Expressed in kidney (at protein level) (PubMed:24561201). In the nephron, expressed in the distal convoluted tubule, the connecting tubule, the collecting duct and cortical thick ascending limbs (PubMed:20651251).
Cellular localization
- Membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- In kidney distal convoluted tubules, located in the basolateral membrane where it colocalizes with KCNJ16.
Alternative names
ATP-sensitive inward rectifier potassium channel 10, ATP-dependent inwardly rectifying potassium channel Kir4.1, Inward rectifier K(+) channel Kir1.2, KCNJ10