| SCA6 | |
|---|---|
| Full Name | CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) |
| Chromosomal Location | 19p13.13 |
| NCBI Gene ID | 774 |
| OMIM | 117013 |
| UniProt ID | Q00978 |
| Category | Ion Channel |
The SCA6 gene encodes CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), a ion channel protein. It is involved in various cellular processes relevant to neurodegeneration.
CACNA1A encodes the P/Q-type voltage-dependent calcium channel alpha-1A subunit (CaV2.1). This channel is critical for synaptic transmission, particularly at Purkinje cells and cerebellar granule cells. The channel mediates calcium influx necessary for neurotransmitter release and dendritic excitability.
| Disease | Role in Disease |
|---|---|
| Spinocerebellar Ataxia Type 6 | CAG repeat expansion in CACNA1A causes cerebellar degeneration |
| Familial Hemiplegic Migraine | Missense mutations cause FHM1 |
| Epilepsy | Channel dysfunction can cause epileptic encephalopathy |