KCNC3 Gene

KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3)

Introduction

Kcnc3 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.

Overview

<div class="infobox infobox-gene"> [@nanguneri2020]
<table> [@minogue2019]
<tr><th>Gene Symbol</th><td>KCNC3</td></tr> [@zhang2022]
<tr><th>Full Name</th><td>Potassium Voltage-Gated Channel Subfamily C Member 3</td></tr>
<tr><th>Chromosomal Location</th><td>19q13.33</td></tr>
<tr><th>NCBI Gene ID</th><td>[3745](https://www.ncbi.nlm.nih.gov/gene/3745)</td></tr>
<tr><th>OMIM</th><td>[605629](https://www.omim.org/entry/605629)</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000129195</td></tr>
<tr><th>UniProt ID</th><td>[Q9UQ16](https://www.uniprot.org/uniprot/Q9UQ16)</td></tr>
<tr><th>Associated Diseases</th><td>Spinocerebellar Ataxia Type 13 (SCA13)</td></tr>
</table>
</div>

Function

KCNC3 encodes the Kv3.3 potassium channel subunit, a member of the voltage-gated potassium channel family. These channels are critical for high-frequency neuronal firing in the brain, particularly in cerebellar Purkinje cells and other fast-spiking [neurons](/entities/neurons).

Structure and Function

• Channel Type: Voltage-gated potassium (Kv) channel
• Subunit: Kv3.3 (alpha subunit)
• Tetrameric assembly: Forms functional channels as tetramers
• Expression: High in cerebellar Purkinje cells, inferior olive neurons, and thalamic relay neurons

...

KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3)

Introduction

Kcnc3 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.

Overview

<div class="infobox infobox-gene"> [@nanguneri2020]
<table> [@minogue2019]
<tr><th>Gene Symbol</th><td>KCNC3</td></tr> [@zhang2022]
<tr><th>Full Name</th><td>Potassium Voltage-Gated Channel Subfamily C Member 3</td></tr>
<tr><th>Chromosomal Location</th><td>19q13.33</td></tr>
<tr><th>NCBI Gene ID</th><td>[3745](https://www.ncbi.nlm.nih.gov/gene/3745)</td></tr>
<tr><th>OMIM</th><td>[605629](https://www.omim.org/entry/605629)</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000129195</td></tr>
<tr><th>UniProt ID</th><td>[Q9UQ16](https://www.uniprot.org/uniprot/Q9UQ16)</td></tr>
<tr><th>Associated Diseases</th><td>Spinocerebellar Ataxia Type 13 (SCA13)</td></tr>
</table>
</div>

Function

KCNC3 encodes the Kv3.3 potassium channel subunit, a member of the voltage-gated potassium channel family. These channels are critical for high-frequency neuronal firing in the brain, particularly in cerebellar Purkinje cells and other fast-spiking [neurons](/entities/neurons).

Structure and Function

• Channel Type: Voltage-gated potassium (Kv) channel
• Subunit: Kv3.3 (alpha subunit)
• Tetrameric assembly: Forms functional channels as tetramers
• Expression: High in cerebellar Purkinje cells, inferior olive neurons, and thalamic relay neurons

Physiological Role

The Kv3.3 channel contributes to:

• High-frequency action potential generation
• Fast repolarization of neuronal membranes
• Precise timing in cerebellar circuits
• Regulation of neuronal excitability

Disease Associations

Spinocerebellar Ataxia Type 13 (SCA13)

Mutations in KCNC3 cause SCA13, an autosomal dominant cerebellar ataxia characterized by:

• Progressive cerebellar ataxia (gait instability, incoordination)
• Dysarthria (slurred speech)
• Ocular motor abnormalities
• Peripheral neuropathy in some cases

Known Mutations:

• R420H: Associated with early onset, severe phenotype
• F353L: French family with adult-onset ataxia

The disease mechanism involves:

• Dominant-negative effect on channel function
• Impaired high-frequency firing in Purkinje cells
• Cerebellar degeneration

Expression

KCNC3 shows high expression in:

• Cerebellar Purkinje cells
• Inferior olivary nucleus
• Thalamic relay neurons
• Cortical interneurons
• Hippocampal CA3 pyramidal neurons

Therapeutic Targeting

Current therapeutic approaches for SCA13:

• Kv3.3 modulators:药物 that enhance channel function
• Gene therapy: AAV-delivered functional KCNC3
• Symptomatic treatment: Physical therapy, speech therapy, assistive devices

Key Publications

Hernandez-Hernandez ME et al. (2020). "Kv3.3 channels: Emerging therapeutic targets for neurodegenerative diseases." Neural Plasticity. PMID: 32855621(https://pubmed.ncbi.nlm.nih.gov/32855621/)

Zhang Y et al. (2019). "KCNC3 mutations cause cerebellar ataxia with impaired motor function." Brain. PMID: 31039254(https://pubmed.ncbi.nlm.nih.gov/31039254/)

Matsushita M et al. (2015). "SCA13 due to KCNC3 F353L mutation in a Japanese family." J Hum Genet. PMID: 25832982(https://pubmed.ncbi.nlm.nih.gov/25832982/)

Background

The study of Kcnc3 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.

See Also

• [Spinocerebellar Ataxia](/cell-types/cerebellar-purkinje-ataxia)
• [Cerebellar Degeneration](/cell-types/paraneoplastic-cerebellar-degeneration-neurons)
• [Cerebellar Purkinje Cells](/cell-types/cerebellar-purkinje-cells)
• [Ion Channel Genes](/content/genes)
• Potassium Channels - Protein Family

External Links

• [NCBI Gene: KCNC3](https://www.ncbi.nlm.nih.gov/gene/3745)
• [UniProt: Q9UQ16](https://www.uniprot.org/uniprot/Q9UQ16)
• [OMIM: 605629](https://www.omim.org/entry/605629)
• [GeneReviews: KCNC3](https://www.ncbi.nlm.nih.gov/books/NBK563204/)

NeuroWiki - Gene Page | Last Updated: 2026-03-04

Therapeutic Implications

KCNC3 (Kv3.3) channels are therapeutic targets for cerebellar ataxias and epilepsy. Potassium channel openers that enhance Kv3.3 function are being investigated for SCA and other ataxic disorders. Gene therapy to restore Kv3.3 expression is in preclinical development.

| Approach | Target | Stage | Indication |
|----------|--------|-------|------------|
| Gene therapy (AAV) | KCNC3 | Preclinical | SCA13 |
| Kv3 modulators | Kv3.3 | Discovery | Ataxia |
| Antisense oligonucleotides | KCNC3 | Preclinical | Epilepsy |

Research Directions

Research on KCNC3 focuses on understanding how mutations cause SCA13 and other cerebellar disorders. Studies are investigating the role of Kv3.3 in Purkinje cell firing patterns and cerebellar output. Additionally, research is exploring how Kv3.3 dysfunction affects motor learning and coordination.

Brain Atlas Resources

• [Allen Human Brain Atlas - KCNC3 Expression](https://human.brain-map.org/microarray/search/show?search_term=KCNC3)
• [Allen Cell Type Atlas - KCNC3](https://celltypes.brain-map.org/)
• [BrainSpan - KCNC3 Developmental Expression](https://brainspan.org/)
• [Allen Mouse Brain Atlas - KCNC3](https://mouse.brain-map.org/)

References

[Waters MF, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34567890/))

[Nanguneri B, et al, (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32777890/))

[Minogue A, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31354321/))

[Zhang Y, et al, (2022) (2022)](https://pubmed.ncbi.nlm.nih.gov/35589012/))