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. [1]
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. [2]
| Property | Value | [3]
|----------|-------| [4]
| Gene Symbol | CACNA1H | [5]
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 H | [6]
| Chromosomal Location | 16p13.3 | [7]
| 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.
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 |
Jahromi SS, et al. Cereb Cortex 2019;29:3834-3847. Cereb Cortex. 2019. ↩︎
Saito Y, et al. Brain Dev 2015;37:783-789. Brain Dev. 2015. ↩︎
Chen Y, et al. PLoS One 2013;8:e82491. PLoS One. 2013. ↩︎
Lu YH, et al. Sci Rep 2018;8:16887. Sci Rep. 2018. ↩︎
Wang G, et al. Cell Calcium 2017;61:41-48. Cell Calcium. 2017. ↩︎
Huang H, et al. Neuropharmacology 2017;118:49-61. Neuropharmacology. 2017. ↩︎
Wang J, et al. J Neurosci 2019;39:5937-5950. J Neurosci. 2019. ↩︎