Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| CACNA1F calcium voltage-gated channel subunit alpha1 F | JM8 , OA2 , AIED , COD3 , COD4 , JMC8 , CORDX , CSNB2 , CORDX3 , CSNB2A , CSNBX2 , Cav1.4 , Cav1.4alpha1 | Homo sapiens | 48 | protein-coding | CACNA1A , CACNA1E , CACNA1B , CACNA1G , CACNA1I , CACNA1H , SCN8A , SCN4A , SCN10A , SCN11A , SCN5A , SCN1A , SCN7A , SCN9A , SCN2A , SCN3A , CACNA1S , CACNA1C , CACNA1D | 300110 |
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]
GeneOntology
Gene Loss events - CACNA1F (3 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_56QECX | Chrysochloris asiatica | Afrosoricida | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_DBGFTJ | Nannospalax galili | Rodentia | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_JRZ4PR | Orycteropus afer | Tubulidentata | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |