Species: Hu
Applications: IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, ELISA
Host: Mouse Monoclonal
Species: Hu
Applications: WB
Species: Hu
Applications: AC
Description
CACNA1F encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2).
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
|
| Product By Gene ID |
778 |
| Alternate Names |
- AIED
- CACNAF1
- calcium channel, voltage-dependent, L type, alpha 1F subunit
- Cav1.4
- Cav1.4alpha1
- COD4
- CORDX
- CORDX3CSNB2
- CSNB2AAland island eye disease (Forsius-Eriksson ocular albinism, ocular albinismtype 2)
- CSNBX2
- JM8
- JMC8
- OA2COD3
- voltage-dependent L-type calcium channel subunit alpha-1F
- Voltage-gated calcium channel subunit alpha Cav1.4
|
