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CACNA1C

Alpha 1C subunit

Gene Number: 775

Location: 12p13.33

Key Functions: Voltage-gated calcium signaling, cardiac muscle contraction, neuronal excitability, gene transcription regulation


CACNA1C encodes the alpha-1C subunit of the L-type voltage-gated calcium channel (Cav1.2), which is essential for the influx of calcium ions into cells upon membrane depolarization.


These channels are crucial for:

  • Initiating muscle contractions, particularly in the heart

  • Regulating neuronal activity in the brain


Mutations or dysregulation of CACNA1C have been associated with several disorders, including Timothy syndrome, Brugada syndrome, and neuropsychiatric conditions such as bipolar disorder and schizophrenia.

SNP ID
Your Genotype
Alternative Alleles
Interpretation
rs1006737
No matching variant or no valid DNA data
A
No interpretation available
rs1006737 (CACNA1C, intronic A>G)

  • GG – Normal risk; baseline population frequency, not associated with elevated psychiatric risk (R).

  • AG – Intermediate risk; carriers show modestly increased odds of bipolar disorder (OR ~1.18) and associations with major depressive disorder and schizophrenia (R).

  • AA – Increased risk; linked to higher risk of bipolar disorder (OR ~1.18–1.2 per A allele), as well as recurrent major depression and schizophrenia (R).

Functional effect: The A allele is associated with altered CACNA1C expression, impacting calcium channel signaling. Carriers show measurable changes in brain structure and function, including frontotemporal connectivity and working memory processing, even in healthy individuals.


Learn more about what you can do to mitigate risks, and other factors involved by becoming a member of GenesUnveiled today!


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