CACNA1F
CACNA1F is a human gene that encodes the alpha-1F subunit of the Cav1.4 voltage-gated calcium channel, a member of the L-type (Cav1) family. The channel forms the pore that allows calcium influx in response to membrane depolarization and thereby drives neurotransmitter release at photoreceptor synapses in the retina. The CACNA1F gene is located on the X chromosome and is expressed predominantly in retinal tissue, with strong enrichment in photoreceptor terminals where cone pathways are prominent.
The protein features the typical architecture of voltage-gated calcium channel alpha1 subunits, consisting of four homologous
Clinical significance associated with CACNA1F mutations principally includes X-linked congenital stationary night blindness type 2 (CSNB2).