Gene: CACNA1C

Alternate names for this Gene: CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.33

Description of this Gene: calcium voltage-gated channel subunit alpha1 C

Type of Gene: protein-coding

Gene: CACNA1C-IT3

Alternate names for this Gene:

Gene Summary:

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rs10744560 in CACNA1C;CACNA1C-IT3 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs10744560 in CACNA1C;CACNA1C-IT3 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs10744560 in CACNA1C;CACNA1C-IT3 gene and Major Depressive Disorder PMID 20351715 2011 Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.