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].