| Symbol | CACNA1F |
| Name | calcium voltage-gated channel subunit alpha1 F |
| Type | protein-coding |
| Source | mygene |
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
This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.