DISEASES

Disease-gene associations mined from literature

Literature associating KCNC1 and spinocerebellar ataxia type 19/22

KCNC1 [ENSP00000265969]

Potassium voltage-gated channel subfamily C member 1; Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient . Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons. ; Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.

Synonyms:  KCNC1,  KCNC1p,  hKCNC1,  A0A1W2PNN0,  A0A1W2PNZ3 ...

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