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

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

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

• Voltage-gated calcium channel
• Familial hemiplegic migraine
• Episodic ataxia
• Spinocerebellar ataxia

External links

• CACNA1A at Genetics Home Reference
• CACNA1A at National Center for Biotechnology Information

CACNA1A Resources
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