{"symbol":"CACNA1F","synonyms":["COD4","COD3","CSNB2A","CSNBX2","CORDX3","CAV1.4","AIED","JM8","CSNB2","JMC8","CORDX","CAV1.4ALPHA1","OA2"],"name":"calcium channel, voltage-dependent, L type, alpha 1F subunit","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]","ncbiEntrezGeneId":778,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/778","proteins":[{"symbol":"CAC1F_HUMAN","href":"/api/1.0/protein/CAC1F_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}