CACNA1F
Sign in to saveAlso known as AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2
Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.
Gene data
CACNA1F- Name
- calcium voltage-gated channel subunit alpha1 F
- Type
- protein-coding
- Chromosome
- X
- Position
- 49,205,063–49,233,371 (−)
- Aliases
- AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1
- Ensembl
- ENSG00000102001
- RefSeq RNA
- NM_001256789.3, NM_001256790.3, NM_005183.4, XM_011543983.3, XM_017029836.1
- RefSeq protein
- NP_001243718.1, NP_001243719.1, NP_005174.2, XP_011542285.1, XP_016885325.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
calcium voltage-gated channel subunit alpha1 F
- Symbol
- CACNA1F
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:49,205,063-49,233,371
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 74542
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/778
- chromosome
- human X chromosome
- genomic start
- 49061523
- genomic end
- 49089833
- cytogenetic location
- Xp11.23
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- See also
- References
- Further reading
- External links
Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.
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 congenital stationary night blindness type 2 (CSNB2).
Excerpted from Wikipedia’s “CACNA1F” article, available under the CC BY-SA 4.0 licence.