CACNA1I
CACNA1I is a gene that in humans encodes the calcium channel, voltage-dependent, T type, alpha 1I subunit. This gene is also known as Cav3.3 and is part of the calcium channel family.
Function[edit | edit source]
The protein encoded by the CACNA1I gene is a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization and consist 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 CACNA1I gene have been associated with various psychiatric disorders, including schizophrenia, bipolar disorder, and major depressive disorder. Research has also suggested a potential link between CACNA1I and autism spectrum disorder.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
