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CACNA1A - calcium voltage-gated channel subunit alpha1 A
- Synonym(s) : APCA, Cav2.1, EA2, FHM, HPCA
- Previous symbols and names : CACNL1A4, MHP, MHP1, SCA6, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
- Type : gene with protein product
- Chromosomal location : 19p13.13
- OMIM: 601011
- HGNC: 1388
- UniProtKB: O00555
- Genatlas: CACNA1A
- GenCC: CACNA1A
- Ensembl: ENSG00000141837
- IUPHAR-DB: 532
- Reactome: O00555
- LOVD: CACNA1A
Diseases list
- Disease-causing germline mutation(s) in Benign paroxysmal torticollis of infancy
ORPHA:71518 
- Disease-causing germline mutation(s) in Familial or sporadic hemiplegic migraine
ORPHA:569 - Disease-causing germline mutation(s) in Non-specific early-onset epileptic encephalopathy
ORPHA:442835 - Disease-causing germline mutation(s) in Spinocerebellar ataxia type 6
ORPHA:98758 - Disease-causing germline mutation(s) (loss of function) in Familial paroxysmal ataxia
ORPHA:97 - Disease-causing germline mutation(s) (loss of function) in Lennox-Gastaut syndrome
ORPHA:2382 - Disease-causing germline mutation(s) (gain of function) in Lennox-Gastaut syndrome
ORPHA:2382 - Candidate gene tested in Alternating hemiplegia of childhood
ORPHA:2131
: AssessedAdditional information
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Research activities on this gene
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