DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1F and episodic ataxia type 2

CACNA1F [ENSP00000365441]

Voltage-dependent L-type calcium channel subunit alpha-1F; [Isoform 1]: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium- dependent inactivation (CDI), due to incoming calcium ions, during depolarization. [Isoform 6]: Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exibits a robust calcium- dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.

Synonyms:  CACNA1F,  CACNA1Fp,  hCACNA1F,  H7C549,  O60840 ...

Linkouts:  STRING  Pharos  UniProt  OMIM