CACNA1A - Gene Detail
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| Gene Symbol | CACNA1A | ||||||||||
| Synonyms | APCA | BI | CACNL1A4 | CAV2.1 | DEE42 | EA2 | EIEE42 | FHM | HPCA | MHP | MHP1 | SCA6 | ||||||||||
| Gene Description | CACNA1A, calcium voltage-gated channel subunit alpha1 A, encodes the component forming the ion-conductiong pore of the neuronal P/Q-type calcium channel (PMID: 8898206), which plays a role in neurotransmission and neurotransmitter release (PMID: 15003170, PMID: 10670432), maintaining proper neurological function (PMID: 22249839). CACNA1A fusion and germline mutation have been identified in lung cancer (PMID: 33809651, PMID: 34540367), and hypermethylation of CACNA1A has been identified in lung cancer (PMID: 20849603). | ||||||||||
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