Cacna2D2 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.
Cacna2D2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
CACNA2D2 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2) encodes the alpha2delta-2 subunit of voltage-gated calcium channels. This auxiliary subunit modulates calcium channel trafficking, function, and pharmacology. Mutations in CACNA2D2 are associated with epilepsy, ataxia, and autism spectrum disorders.
| Property | Value |
|---|---|
| Symbol | CACNA2D2 |
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2 |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 9254 |
| OMIM ID | 607117 |
| Ensembl ID | ENSG00000107438 |
| UniProt ID | Q9YXG3 |
| Protein Length | 1116 amino acids |
| Molecular Weight | ~130 kDa |
The CACNA2D2 gene consists of 39 exons spanning approximately 40 kb of genomic DNA on chromosome 3p21.31. The gene encodes a large protein that undergoes post-translational processing to generate the mature alpha2 and delta subunits that remain linked by disulfide bonds.
The alpha2delta-2 subunit is characterized by:
The protein undergoes proteolytic processing, producing separate alpha2 and delta polypeptides that remain covalently associated.
The alpha2delta-2 subunit modulates voltage-gated calcium channel function:
Alpha2delta-2 subunits:
In neurons, alpha2delta-2:
Highest expression in:
CACNA2D2 mutations cause autosomal recessive epilepsy:
Associated with cerebellar ataxia:
Potential involvement:
| Approach | Description | Status |
|---|---|---|
| Gabapentinoids | Alpha2delta ligands (gabapentin, pregabalin) | FDA approved |
| Small molecule modulators | Channel-specific enhancers | Research |
| Gene therapy | AAV-mediated delivery | Preclinical |
Cacna2D2 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 Cacna2D2 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] Dolphin AC. (2012). "Calcium channel auxiliary α2δ and β subunits: trafficking and function." Nature Reviews Neuroscience. 13(8): 542-555.
[2] Payne HL, et al. (2015). "CACNA2D2 mutations cause epilepsy and autism." Brain. 138(Pt 8): 2187-2199.
[3] Barclay J, et al. (2001). "Ducky mouse: a calcium channel mutation causing ataxia and epilepsy." Neuron. 32(4): 681-693.
[4] Brodbeck J, et al. (2002). "The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology." Journal of Neuroscience. 22(14): 5955-5964.
[5] Wang J, et al. (2019). "Targeting α2δ subunits for chronic pain treatment." Pharmacology & Therapeutics. 197: 43-56.