| Entrez Gene ID |
775 (NCBI Gene) |
| Official Gene Symbol |
CACNA1C (GeneCards) |
| Number of variants in CACNA1C in this database |
8 (view all the variants) |
| Full name |
calcium voltage-gated channel subunit alpha1 C |
| Band |
12p13.33 |
| Other IDs |
Vega:
OTTHUMG00000150243
OMIM:
114205
HGNC:
HGNC:1390
Ensembl:
ENSG00000151067
|
| Other names |
TS,
LQT8,
CACH2,
CACN2,
CaV1.2,
CCHL1A1,
CACNL1A1
|
| Summary |
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012] |