CACNA1C


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CACNA1C

A gene on chromosome 12p13.3 that encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis. CACNA1C is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons.

Molecular pathology
Defects of CACNA1C cause Timothy syndrome and Brugada syndrome type 3.
References in periodicals archive ?
Second, compared with other IHP patients, it is unknown whether the main symptom is under the background of genetics or not (9), such as the CACNA1C genotype, a subunit of the L-type voltage-gated calcium channel (10).
Effects of the CACNA1C risk allele for bipolar disorder on cerebral gray matter volume in healthy individuals.
Associations between schizophrenia and genes that encode voltage-gated calcium channel subunits, including CACNA1C, CACNB2, and CACNA11, also were observed.
This pathway includes the genes CACNA1C and CACNB2, whose proteins touch each other as part of an important process in nerve cells.
CACNA1C is known to affect brain circuitry involved in emotion, thinking, attention, and memory--functions that can be disrupted in mental illnesses.
One of the genes, called CACNA1C, has previously been fingered in bipolar disorder and schizophrenia.
The remaining five gene knockout rat lines developed in the original collaboration-for the genes MECP2, NRXN1, CACNA1C, PTEN, and MGLUR5-are expected to be released soon.
Recent molecular data from genome-wide association has shown that variation at a polymorphism within the calcium channel gene, CACNA1C, is associated with risk of recurrent unipolar depression and schizophrenia (21) as well as with bipolar disorder (22).
Bipolar disorder risk allele at CACNA1C also confers risk to recurrent major depression and to schizophrenia.
Using the predicted targets in our most significant miRNA networks, we found that the following genes overlap with the existing database: BDNF, BMPR2, CACNA1C CSNK1D, HMGA2, HSF2, HSPH1, and PIM1.