calcium channel, voltage-dependent, L type, alpha 1F subunit
Symbol
CACNA1F
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| cacna1f | Danio rerio | |
| Cacna1f | Mus musculus | |
| Cacna1f | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006811 | ion transport | biological_process | |
| GO:0006874 | cellular calcium ion homeostasis | biological_process | |
| GO:0007411 | axon guidance | biological_process | |
| GO:0007601 | visual perception | biological_process | |
| GO:0048813 | dendrite morphogenesis | biological_process | |
| GO:0050896 | response to stimulus | biological_process | |
| GO:0050908 | detection of light stimulus involved in visual perception | biological_process | |
| GO:0051925 | regulation of calcium ion transport via voltage-gated calcium channel activity | biological_process | |
| GO:0055085 | transmembrane transport | biological_process | |
| GO:0060041 | retina development in camera-type eye | biological_process | |
| GO:0005891 | voltage-gated calcium channel complex | cellular_component | |
| GO:0016020 | membrane | cellular_component | |
| GO:0016021 | integral to membrane | cellular_component | |
| GO:0005244 | voltage-gated ion channel activity | molecular_function | |
| GO:0005245 | voltage-gated calcium channel activity | molecular_function | |