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 ?
Neurogenetic advances have demonstrated some shared genes among schizophrenia, bipolar disorders, and major depressive disorder (such as the CACNA1C gene).
4] A recent cross-disorder genomewide association study found similar genetic sensitivities in these five diagnostically distinct disorders on regions of chromosomes 3p21 and 10q24 and single-nucleotide polymorphisms (SNPs) within two genes that encode L-type voltage-gated calcium channel subunits, CACNA1C and CACNB2.
This syndrome is associated with autosomaldominant mutations in CACNA1C encoding alpha-subunit of [f.
CACNA1C for calcium channels and KCNQ2 for potassium channels) that are involved in neurotransmission, neuroplasticity, emotional processing, and cognition [18, 48, 49].
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).
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.
6) Furthermore, LQT4 to LQT8 are rarer forms, the involved genes being ANK2, KCNE1, KCNE2, KCNJ2 and CACNA1C respectively.
For example, the identified shared genetic variations on SNPs within two L-type voltage-gated calcium channel subunits of CACNA1C and CACNB2 for five diagnostically separate mental illnesses [2] may only indicate that one step in the long pathological process for the conditions is shared.