KCNT1
Function
Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 14
DEE14
A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.
None
The disease is caused by variants affecting the gene represented in this entry.
Epilepsy, nocturnal frontal lobe, 5
ENFL5
An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By similarity).
Sequence Similarities
Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily.
Tissue Specificity
Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
KIAA1422, KCNT1, Potassium channel subfamily T member 1, KCa4.1