KCNC1 gene

potassium voltage-gated channel subfamily C member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

From UniProt:

Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may 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.

From NCBI Gene:

  • Epilepsy, progressive myoclonic 7

From UniProt:

Epilepsy, progressive myoclonic 7 (EPM7): A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. [MIM:616187]

Cytogenetic Location: 11p15, which is the short (p) arm of chromosome 11 at position 15

Molecular Location: base pairs 17,734,810 to 17,783,055 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15, which is the short (p) arm of chromosome 11 at position 15
  • EPM7
  • KV3.1
  • KV4
  • NGK2