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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CACNA1F-20-RE | 20 (40 μL) | 200 μL |  |
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| CACNA1F-20-OR | 20 (40 μL) | 200 μL |  |
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| CACNA1F-20-GO | 20 (40 μL) | 200 μL |  |
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| CACNA1F-20-GR | 20 (40 μL) | 200 μL |  |
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| CACNA1F-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CACNA1F
Gene Name : Calcium voltage-gated channel subunit alpha1 F
Chromosome : CHR X: 492,334,03-492,050,62
Locus : Xp11.23
Alt. Genes : OPTN
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