CACNA1F, Official Symbol CACNA1Fprovided by HGNC Official Full Name calcium voltage-gated channel subunit alpha1 Fprovided by HGNC Primary source HGNC:HGNC:1393 See related Ensembl:ENSG00000102001 MIM:300110; AllianceGenome:HGNC:1393 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JM8; OA2; AIED; COD3; COD4; JMC8; CORDX; CSNB2; CORDX3; CSNB2A; CSNBX2; Cav1.4; Cav1.4alpha1 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all