Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective.
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ABSTRACT:
SUBMITTER: Schneider T
PROVIDER: S-EPMC7351833 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
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Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective.
Schneider T T Neumaier F F Hescheler J J Alpdogan S S
Pflugers Archiv : European journal of physiology 20200611 7
So-called pharmacoresistant (R-type) voltage-gated Ca<sup>2+</sup> channels are structurally only partially characterized. Most of them are encoded by the CACNA1E gene and are expressed as different Ca<sub>v</sub>2.3 splice variants (variant Ca<sub>v</sub>2.3a to Ca<sub>v</sub>2.3e or f) as the ion conducting subunit. So far, no inherited disease is known for the CACNA1E gene but recently spontaneous mutations leading to early death were identified, which will be brought into focus. In addition, ...[more]
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