Article
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Pflugers Archiv : European journal of physiology - 1 Sept 2021
Koschak Alexandra, Fernandez-Quintero Monica L, Heigl Thomas, Ruzza Marco, Seitter Hartwig, Zanetti Lucia
Abstract excerpt
Cav1.4 L-type Ca2+ channels are predominantly expressed in retinal neurons, particularly at the photoreceptor terminals where they mediate sustained Ca2+ entry needed for continuous neurotransmitter release at their ribbon synapses. Cav1.4 channel gating properties are controlled by accessory subunits, associated regulatory proteins, and also alternative splicing. In humans, mutations in the CACNA1F gene encoding...
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