Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
CACNA1A
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit




19p13.2-p13.1
* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.40, 13.45)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.40, 13.45)
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.40, 13.45)