IndraLab

Statements


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"Variants located in CACNA1C, CACNA1D, CACNA1F and CACNB2 cause gain of function by preventing voltage-dependent inactivation of Ca 1.2, Ca 1.3, Ca 1.4, and Ca β2, leading to excessive influx of Ca ."

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"CACNA1F gene encodes a multipass transmembrane protein of 1,977 amino acids which is homologous to L-type calcium channel alpha-1 subunits (the Ca v 1.4 channel) and mediates the influx of calcium ions into the cell [XREF_BIBR, XREF_BIBR]."

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"The gating properties of Cav1.4 channels [11, 53, 64] are perfectly suited to mediate sustained Ca entry needed for continuous release of neurotransmitters at photoreceptor ribbon synapses in the dark [84, 102]."

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"Indeed, heterologously expressed Cav1.4 LTCCs show fast activation and allow Ca influx at membrane potentials negative to − 40 mV."