Disease-gene associations mined from literature

Literature associating KCNN1 and early infantile epileptic encephalopathy 7

KCNN1 [ENSP00000476519]

Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity); Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily.

Synonyms:  KCNN1,  KCNN1p,  hKCNN1,  KCNN1-001,  KCNN1-004 ...

Linkouts:  STRING  Pharos  UniProt