Scn4A 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.
Scn4A 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.
SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4) encodes the skeletal muscle sodium channel Nav1.4, critical for muscle excitability and contraction.
| Property | Value |
|---|---|
| Gene Symbol | SCN4A |
| Full Name | Sodium Voltage-Gated Channel Alpha Subunit 4 |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 6329 |
| Ensembl ID | ENSG00000007314 |
| UniProt | P15324 |
The SCN4A gene encodes Nav1.4, a voltage-gated sodium channel:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Hyperkalemic Periodic Paralysis | Causative | SCN4A gain-of-function mutations cause hyperkalemic periodic paralysis |
| Hypokalemic Periodic Paralysis | Causative | SCN4A mutations can cause hypokalemic periodic paralysis |
| Paramyotonia Congenita | Causative | SCN4A mutations cause cold-induced myotonia |
| Myotonia | Causative | Mutations cause various myotonia phenotypes |
| Neuromuscular Disorders | Various | Multiple channelopathies |
SCN4A shows specific expression:
Scn4A 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 Scn4A 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] Cannon SC, et al. Physiol Rev 2006;86:967-1008