Gene Symbol | CACNA1F |
Entrez Gene ID | 778 |
Full Name | calcium voltage-gated channel subunit alpha1 F |
Synonyms | AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,Cav1.4alpha1,JM8,JMC8,OA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3); Cone-rod dystrophy, X-linked, 3, 300476 (3); Aland Island eye disease, 300600 (3) |