CACNA1C
CACNA1C is a gene that in humans encodes the alpha-1C subunit of a voltage-dependent calcium channel. Calcium channels encoded by CACNA1C play a crucial role in the contraction of muscle cells, and the regulation of neurotransmitter release and gene expression.
Function[edit | edit source]
The CACNA1C gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the entry 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.
Clinical significance[edit | edit source]
Mutations in the CACNA1C gene are associated with a variety of psychiatric disorders, including schizophrenia, bipolar disorder, and major depressive disorder. In addition, mutations in this gene have been linked to Timothy syndrome, a rare disorder characterized by heart abnormalities, developmental delays, and other symptoms.
See also[edit | edit source]
- Voltage-dependent calcium channel
- Timothy syndrome
- Schizophrenia
- Bipolar disorder
- Major depressive disorder
References[edit | edit source]
External links[edit | edit source]
- Human CACNA1C gene details
- [gene Clinical variants of CACNA1C]
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Contributors: Prab R. Tumpati, MD
