QuickView for CACNA1F (gene)

Gene Symbol:

CACNA1F Homo sapiens

Full name:

calcium channel, voltage-dependent, L type, alpha 1F subunit

Synonyms:

OA2, voltage gated calcium channel alpha 1F subunit, voltage-dependent L-type calcium channel subunit alpha-1F, voltage-gated calcium channel subunit alpha Cav1.4, Cav1.4, Cav1.4alpha1, calcium channel, voltage-dependent, L type, alpha 1F subunit, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2), AIED, JM8, JMC8

Genomic Location:

Chr X: 48948467-48976777

Description:

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 s...

View Full Description

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). [provided by RefSeq]

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

Unknown transcription factor binding site geneset 3 ,  GATA3 binding site geneset 1 ,  GATA1 binding site geneset 2 ,  LMO2 binding site geneset 2 ,  MTF1 binding site geneset 1

Cytogenetic Map:

Xp11.23

search → result