Cacna1H 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.
Cacna1H 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.
CACNA1H (Calcium Voltage-Gated Channel Subunit Alpha1 H) encodes the α1H subunit of voltage-gated calcium channels, forming the pore of the T-type (CaV3.2) calcium channel.
| Property | Value |
|---|---|
| Gene Symbol | CACNA1H |
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 H |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 8916 |
| Ensembl ID | ENSG00000118260 |
| UniProt | O43480 |
The CACNA1H gene encodes the α1H subunit that forms the pore of the T-type calcium channel (CaV3.2). This channel is characterized by:
T-type channels are essential for:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Childhood Absence Epilepsy | Causative | Multiple CACNA1H mutations cause susceptibility |
| Autism Spectrum Disorder | Risk Modulator | De novo mutations in ASD patients |
| Alzheimer's Disease | Risk Modulator | Altered T-type function in AD brain |
| Major Depression | Risk Modifier | Genetic association studies |
CACNA1G shows broad expression:
| Drug/Compound | Type | Status | Notes |
|---|---|---|---|
| Ethosuximide | Small molecule | Approved | First-line for absence seizures |
| VPA | Small molecule | Approved | Broad antiepileptic |
| Zonisamide | Small molecule | Approved | T-type blocker |
Cacna1H 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 Cacna1H 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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[4] Chen Y, et al. PLoS One 2013;8:e82491. PMID:24349281
[5] Lu YH, et al. Sci Rep 2018;8:16887. PMID:30442957
[6] Wang G, et al. Cell Calcium 2017;61:41-48. PMID:28063538
[7] Huang H, et al. Neuropharmacology 2017;118:49-61. PMID:28232295
[8] Wang J, et al. J Neurosci 2019;39:5937-5950. PMID:31085601
CACNA1H encodes the T-type calcium channel Cav3.2, showing widespread expression:
In neurons, Cav3.2 channels are critical for pacemaking and burst firing.
CACNA1H mutations are associated with childhood absence epilepsy:
In AD, CACNA1H contributes to:
T-type channels in PD:
| Drug | Type | Application |
|---|---|---|
| Ethosuximide | T-type blocker | Absence epilepsy |
| Z944 | T-type blocker | Epilepsy, pain |
| Valproic acid | Broad-spectrum | Epilepsy |
Cain SM, et al. (2011). "T-type calcium channels in absence epilepsy." Channels 5(3): 208-217. ↩︎
Errington AC, et al. (2008). "T-type calcium channels in thalamocortical oscillations." Neuroscientist 14(5): 452-470. ↩︎
Wang D, et al. (2017). "CACNA1H variants in childhood absence epilepsy." Brain Development 39(5): 345-351. ↩︎
Cheng SL, et al. (2019). "T-type channels in Alzheimer's disease." Journal of Alzheimer's Disease 70(2): 345-357. ↩︎
Yu L, et al. (2020). "Cav3.2 and Parkinson's disease." Neurobiology of Disease 139: 104755. ↩︎