Scn7A 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.
Scn7A 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.
SCN7A (Sodium Voltage-Gated Channel Alpha Subunit 7) encodes the Nav2.1 sodium channel (also known as NaX), a voltage-gated sodium channel with unique properties.
| Property | Value |
|---|---|
| Gene Symbol | SCN7A |
| Full Name | Sodium Voltage-Gated Channel Alpha Subunit 7 |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 6332 |
| Ensembl ID | ENSG00000136546 |
| UniProt | Q9UQD0 |
The SCN7A gene encodes Nav2.1 (NaX), a unique sodium channel:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Epilepsy | Risk Modulator | SCN7A variants associated with seizure susceptibility |
| Pain Disorders | Risk Modulator | Altered expression in chronic pain states |
| Autism Spectrum Disorder | Risk Modulator | Rare variants found in ASD patients |
SCN7A shows specific expression:
Scn7A 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 Scn7A 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] Goldin AL, et al. Nomenclature of voltage-gated sodium channels. Neuron 2000;28:365-368