The CACNA1C gene homepage
| General information |
| Gene symbol |
CACNA1C |
| Gene name |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
| Chromosome |
12 |
| Chromosomal band |
p13.3 |
| Imprinted |
- |
| Genomic reference |
NG_008801.2 |
| Transcript reference |
NM_001129840.1 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
7 |
| Unique public DNA variants reported |
6 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1 |
| Date created |
April 15, 2013 |
Active transcripts
| Copyright & disclaimer |
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