Symbol: Name: ID: |
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit GFS:3370 |
Gene name: | CACNA1F |
Chromosome: | Xp11.23 |
Previous Symbols: | CSNB2, AIED |
Previous Names: | Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) |
Aliases: | Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, COD4, OA2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1859639 | Rat Genome Database ID: | RGD:621535 |
HGNC ID: | HGNC:1393 | RefSeq IDs: | NM_005183 |
Entrez Gene ID: | 778 | Ensembl Gene ID: | ENSG00000102001 |
VEGA IDs: | OTTHUMG00000022703 | UniProt ID: | O60840 |
UCSC ID: | uc004dnb.2 | OMIM ID: | 300110 |
Pubmed: | PMID9344658 PMID 9662400 PMID 16382099 PMID 12111638 PMID 17525176 | ||
CCDS IDs: | CCDSCCDS35253.1 |
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, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).
Products for CACNA1F gene
Catalog | Product Name | Application | Company |
GFS:E03370 | calcium channel, voltage-dependent, L type, alpha 1F subunit; ELISA kit | ELISA | n/a |
GFS:A03370 | calcium channel, voltage-dependent, L type, alpha 1F subunit; Anti | ANTIBODIES | n/a |
GFS:P03370 | calcium channel, voltage-dependent, L type, alpha 1F subunit; Protien | Protien | n/a |