CACNA1F( Human )

Entrez Gene 778 Entrez Gene 778
calcium voltage-gated channel subunit alpha1 F

Alias

AIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|Cav1.4alpha1|JM8|JMC8|OA2

This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013].

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