KCNC1 Gene

KCNC1 Gene

Overview

KCNC1 Gene

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">KCNC1 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>KCNC1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Potassium Voltage-Gated Channel Subfamily C Member 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>11p15.5</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>3749</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000129128</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>P48547</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Association Type</td>
</tr>
<tr>
<td class="label">Epilepsy</td>
<td>Causative</td>
</tr>
<tr>
<td class="label">Autism Spectrum Disorder</td>
<td>Risk Modulator</td>
</tr>
<tr>
<td class="label">Alzheimer's Disease</td>
<td>Risk Modulator</td>
</tr>
<tr>
<td class="label">Schizophrenia</td>
<td>Risk Modifier</td>
</tr>
<tr>
<td class="label">Compound</td>
<td>Type</td>
</tr>
<tr>
<td class="label">Autism compound</td>
<td>Enhancer</td>
</tr>
<tr>
<td class="label">Retigabine</td>
<td>Small molecule</td>
</tr>
<tr>
<td class="label">Strategy</td>
<td>Target</td>
</tr>
<tr>
<td class="label">Openers</td>
<td>Kv3.1 channels</td>
</tr>
<tr>
<td class="label">Gene therapy</td>
<td>Restore expression</td>
</tr>
<tr>
<td class="label">Modulators</td>
<td>Channel function</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Kcnc1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Introduction

Kcnc1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@muona2015]

Gene Overview

KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1) encodes the Kv3.1 potassium channel, a high-voltage activated potassium channel critical for fast-spiking [neurons](/entities/neurons). [@lau2000]

Basic Information

Function

The KCNC1 gene encodes the Kv3.1 potassium channel subunit, a member of the Shaw-like subfamily of voltage-gated potassium channels. Kv3.1 is characterized by:

• High-voltage activation: Activates at depolarized potentials (> -10 mV)
• Very fast deactivation: Rapid closing kinetics
• Broad activation range: Unique voltage dependence
• Fast-spiking neuron expression: Highly expressed in fast-spiking interneurons

• High-frequency action potential firing
• Precise temporal coding
• Fast synaptic integration
• Gamma oscillations

Disease Associations

Key Mutations

• R320H: Dominant-negative causing progressive myoclonus epilepsy
• G371R: Loss-of-function causing epilepsy

Expression Pattern

KCNC1 shows selective expression:

• Fast-spiking interneurons: Parvalbumin-positive (PV+) cortical interneurons
• Cerebellar interneurons: Molecular layer interneurons
• [Hippocampus](/brain-regions/hippocampus): CA1 basket cells and axo-axonic cells
• Thalamus: Reticular nucleus neurons
• Striatum: Fast-spiking interneurons

Therapeutic Targeting

Kv3.1 modulators are being developed:

Key Publications

See Also

• [Voltage-Gated Potassium Channels](/mechanisms/ion-channel-dysfunction-neurodegeneration))
• [Fast-Spiking Interneurons](/cell-types/fast-spiking-interneurons)
• [Epilepsy](/diseases/epilepsy)
• [Kv3.1 Protein](/proteins/kv3-1-protein)

External Links

• [NCBI Gene: KCNC1](https://www.ncbi.nlm.nih.gov/gene/3749)
• [UniProt: KCNC1](https://www.uniprot.org/uniprot/P48547)

Overview

Kcnc1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.

Background

The study of Kcnc1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Expression Pattern

KCNC1 encodes Kv3.1, a voltage-gated potassium channel with high expression in:

• Brainstem: Motor and sensory nuclei
• Cerebellum: Purkinje cells, granule cells
• Hippocampus: GABAergic interneurons
• Cerebral cortex: Fast-spiking interneurons
• Thalamus: Relay neurons

Channel Properties

Electrophysiology

• High voltage activation: Requires strong depolarization
• Very fast deactivation: Rapid closure at negative potentials
• Non-inactivating: Sustained potassium currents
• High unitary conductance: Efficient potassium permeation

Function

Kv3.1 channels support:

• High-frequency firing (up to 800 Hz)
• Precise temporal coding
• Fast synaptic integration
• GABAergic interneuron function

Disease Associations

Epilepsy

Kv3.1 dysfunction contributes to epilepsy:

• Impaired fast-spiking interneuron function
• Reduced synaptic inhibition
• Network hyperexcitability
• Seizure susceptibility

Alzheimer's Disease

In AD, KCNC1 alterations affect:

• Hippocampal circuit function
• Memory consolidation
• Gamma oscillation abnormalities
• Neuronal network stability

Ataxia

Channel mutations cause cerebellar ataxia:

• Purkinje cell dysfunction
• Motor coordination deficits
• Synaptic integration problems

Therapeutic Approaches

Key Publications

Refer

References