CACNG2
CACNG2 is a gene that in humans encodes the calcium voltage-gated channel auxiliary subunit gamma 2 protein, also known as stargazin. This protein is a member of the neuronal calcium sensor family, playing a crucial role in the central nervous system.
Function[edit | edit source]
The CACNG2 gene is part of the voltage-dependent calcium channel complex, which is a key player in calcium ion transportation across the cell membrane. The protein encoded by this gene, stargazin, is essential for the proper functioning of these channels. It acts as a chaperone protein, assisting in the trafficking of the calcium channels to the cell membrane and regulating their activity.
Clinical Significance[edit | edit source]
Mutations in the CACNG2 gene have been associated with several neurological disorders. These include epilepsy, autism, schizophrenia, and bipolar disorder. Research is ongoing to further understand the role of this gene in these conditions and to develop potential therapeutic strategies.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
