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cacna1f

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Official Full Name
calcium channel, voltage-dependent, L type, alpha 1F subunit
Background
This gene 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).
Synonyms
CACNA1F; calcium channel, voltage-dependent, L type, alpha 1F subunit; AIED, Aland island eye disease (Forsius Eriksson ocular albinism, ocular albinism type 2) , CSNB2; voltage-dependent L-type calcium channel subunit alpha-1F; Cav1.4; COD4; CORDX3; CSNB2A; CSNBX2; JM8; JMC8; OA2; CACNA 1F; CACNAF; CACNAF1; Calcium channel voltage dependent alpha 1F subunit; Calcium channel voltage dependent L type alpha 1F subunit; Cav1.4alpha1; COD 3; COD3; CORDX 3; CORDX; CSNBX 2; JM 8; JMC 8; Voltage ated calcium channel subunit alpha Cav1.4; Voltage ependent L ype calcium channel subunit alpha F; OTTHUMP00000024299; OTTHUMP00000032032; OTTHUMP00000216983; voltage gated calcium channel alpha 1F subunit; voltage-gated calcium channel subunit alpha Cav1.4; Aland island eye disease (For; AIED; CSNB2