Disease-gene associations mined from literature

Literature associating KCNN4 and autosomal dominant dyskeratosis congenita 3

KCNN4 [ENSP00000262888]

Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4; Forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin; Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily.

Synonyms:  KCNN4,  KCNN4p,  hKCNN4,  D1MQ08,  KCNN4-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM