LongevityMap variant
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
- Conclusions
- A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
- HGNC symbol
- CACNA1C
- Aliases
- TS; LQT8; CACH2; CACN2; CaV1.2; CCHL1A1; CACNL1A1
- Common name
- calcium voltage-gated channel subunit alpha1 C
- Description
- 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]
- OMIM
- 114205
- Ensembl
- ENSG00000151067
- UniProt/Swiss-Prot
- A0A0A0MR67_HUMAN
- Entrez Gene
- 775
- UniGene
- 118262
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- egl-19
- Danio rerio
- cacna1c
- Drosophila melanogaster
- Ca-alpha1D
- Mus musculus
- Cacna1c
- Rattus norvegicus
- Cacna1c
- Saccharomyces cerevisiae
- CCH1
Yashin et al. (2012)
Other variants which are also part of this study
