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.
| Gene Symbol | KCNC3 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily C Member 3 |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3745 |
| OMIM | 605629 |
| Ensembl ID | ENSG00000129195 |
| UniProt ID | Q9UQ16 |
| Associated Diseases | Spinocerebellar Ataxia Type 13 (SCA13) |
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.
The Kv3.3 channel contributes to:
Mutations in KCNC3 cause SCA13, an autosomal dominant cerebellar ataxia characterized by:
Known Mutations:
The disease mechanism involves:
KCNC3 shows high expression in:
Current therapeutic approaches for SCA13:
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.
NeuroWiki - Gene Page | Last Updated: 2026-03-04
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 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.