Cacna1E 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.
Cacna1E 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.
CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 E) encodes the α1E subunit of voltage-gated calcium channels, forming the pore of the R-type (CaV2.3) calcium channel.
| Property | Value |
|---|---|
| Gene Symbol | CACNA1E |
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 E |
| Chromosomal Location | 1q25.1 |
| NCBI Gene ID | 777 |
| Ensembl ID | ENSG00000198004 |
| UniProt | Q15878 |
The CACNA1E gene encodes the α1E subunit that forms the pore of the R-type voltage-gated calcium channel (CaV2.3). This channel is characterized by:
The R-type calcium channel plays critical roles in:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Alzheimer's Disease | Risk Modulator | Altered CaV2.3 expression in AD hippocampal neurons; contributes to calcium dysregulation and excitotoxicity |
| Parkinson's Disease | Risk Modulator | Dysregulated R-type channel function in dopaminergic neurons; potential therapeutic target |
| Epilepsy | Causative | CACNA1E gain-of-function mutations cause early-onset epileptic encephalopathy (DEE69) |
| Bipolar Disorder | Risk Modifier | GWAS signals implicate CACNA1E variants in bipolar disorder susceptibility |
| Intellectual Disability | Causative | De novo missense mutations causeID and developmental delay |
CACNA1E shows region-specific expression in the brain:
Expression data from Allen Brain Atlas shows peak expression during early adulthood.
R-type calcium channels are being explored as therapeutic targets:
| Drug/Compound | Type | Status | Notes |
|---|---|---|---|
| SNX-482 | Peptide toxin | Research | Selective CaV2.3 antagonist from tarantula venom |
| Y5AA-311N | Small molecule | Preclinical | R-type channel blocker |
| Ethosuximide | Small molecule | Approved (absence seizures) | May have off-target effects on R-type channels |
Cacna1E 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 Cacna1E 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.
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