CACNA1A
CACNA1A is a gene that provides instructions for making one part (the alpha-1 subunit) of a calcium channel. This channel, known as the P/Q-type voltage-gated calcium channel, plays a critical role in neurons. It is involved in a variety of cell functions, including the transmission of nerve impulses and the regulation of certain genes.
Function[edit | edit source]
The CACNA1A gene provides instructions for making a protein that forms one part (the alpha-1 subunit) of a calcium channel. This channel, known as the P/Q-type voltage-gated calcium channel, is found in neurons, which are cells that transmit information in the form of electrical signals. The channel controls the flow of positively charged calcium atoms (calcium ions) into neurons.
Clinical significance[edit | edit source]
Mutations in the CACNA1A gene are associated with several neurological disorders, including familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6. These conditions affect movement and coordination and can cause episodes of severe headache, nausea, and vomiting.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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