Cacna2D1 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.
Cacna2D1 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.
CACNA2D1 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1) encodes an auxiliary subunit of voltage-gated calcium channels that modulates channel trafficking and function.
| Property | Value |
|---|---|
| Gene Symbol | CACNA2D1 |
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1 |
| Chromosomal Location | 7q21.11 |
| NCBI Gene ID | 781 |
| Ensembl ID | ENSG00000153933 |
| UniProt | O95198 |
The CACNA2D1 gene encodes the α2δ-1 subunit, a crucial auxiliary component of voltage-gated calcium channels (VGCCs). The α2δ subunit:
α2δ-1 is primarily associated with:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Epilepsy | Risk Modulator | CACNA2D1 variants associated with idiopathic generalized epilepsy |
| Neuropathic Pain | Therapeutic Target | Gabapentinoids act via α2δ-1 to reduce pain |
| Autism Spectrum Disorder | Risk Modulator | De novo mutations found in ASD patients |
| Alzheimer's Disease | Risk Modulator | Altered expression in AD brains |
| Migraine | Risk Modulator | Associated with migraine susceptibility |
CACNA2D1 shows widespread expression:
| Compound | Mechanism | Status | Notes |
|---|---|---|---|
| Gabapentin | α2δ-1 binder | Approved | Reduces neuropathic pain |
| Pregabalin | α2δ-1 binder | Approved | Reduces neuropathic pain and anxiety |
| Mirogabalin | α2δ-1 binder | Approved | More potent gabapentinoid |
Cacna2D1 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 Cacna2D1 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] Patel MK, et al. Brain Res Rev 2009;60:284-294