Scn5A 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.
Scn5A 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.
SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) encodes the cardiac sodium channel Nav1.5, essential for cardiac excitability and conduction.
| Property | Value |
|---|---|
| Gene Symbol | SCN5A |
| Full Name | Sodium Voltage-Gated Channel Alpha Subunit 5 |
| Chromosomal Location | 3p22.2 |
| NCBI Gene ID | 6331 |
| Ensembl ID | ENSG00000183813 |
| UniProt | Q14524 |
The SCN5A gene encodes Nav1.5, the principal cardiac sodium channel:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Long QT Syndrome Type 3 | Causative | SCN5A gain-of-function mutations cause LQT3 |
| Brugada Syndrome | Causative | SCN5A loss-of-function mutations cause BrS1 |
| Cardiac Conduction Disease | Causative | Mutations cause progressive cardiac conduction defect |
| Dilated Cardiomyopathy | Modulator | Some variants contribute to DCM |
| Atrial Fibrillation | Risk Modulator | Variants associated with AF susceptibility |
SCN5A shows specific expression:
Scn5A 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.
The study of Scn5A 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.
[1] Remme CA, et al. Cardiovasc Res 2006;69:297-306