CACNA1A
CACNA1A (pronunciation: kak-na-one-a) is a gene that provides instructions for making one part (the alpha-1 subunit) of a calcium channel. These channels, which transport positively charged calcium atoms (calcium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.
Etymology
The term "CACNA1A" is an abbreviation for "Calcium Voltage-Gated Channel Subunit Alpha1 A". The name is derived from its function and its location in the alpha-1 subunit of the calcium channel.
Function
The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels play a crucial role in the ability of cells to generate and transmit electrical signals. The CACNA1A gene provides instructions for making a protein that forms the alpha-1 subunit of a calcium channel called CaV2.1. This channel is primarily found in the brain, where it contributes to the proper development and function of the nervous system.
Related Terms
- Calcium Channel: A protein that allows calcium ions to move across cell membranes.
- Gene: The basic physical and functional unit of heredity.
- Ion: An atom or molecule with a net electric charge due to the loss or gain of one or more electrons.
- Nervous System: The complex network of nerves and cells that transmit signals between different parts of the body.
Associated Conditions
Mutations in the CACNA1A gene are associated with several neurological conditions, including familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6. These conditions all involve problems with coordination and balance (ataxia) and may also involve other neurological problems.
See Also
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