Cav1.3

Cav1.3 is a protein that in humans is encoded by the CACNA1D gene. It is a subunit of L-type calcium channels, which mediate the entry of calcium ions into excitable cells. These channels are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death.

Structure

The Cav1.3 protein is a large, complex molecule composed of several subunits. The main subunit, alpha 1D, is encoded by the CACNA1D gene. This subunit forms the pore through which calcium ions pass into the cell. It is associated with several other subunits that modulate the properties of the channel and regulate its activity.

Function

Cav1.3 channels are found in many tissues throughout the body, including the heart, brain, and endocrine system. In the heart, they play a crucial role in the contraction of cardiac muscle cells. In the brain, they are involved in the release of neurotransmitters, the chemicals that transmit signals between nerve cells. In the endocrine system, they are involved in the release of hormones.

Clinical significance

Mutations in the CACNA1D gene that encodes Cav1.3 have been associated with several medical conditions. These include primary aldosteronism, a disorder of the adrenal glands that results in high blood pressure; and congenital deafness, a hearing impairment present at birth. In addition, some studies suggest that Cav1.3 may play a role in the development of certain types of cancer.

See also

• Calcium channel
• CACNA1D
• Primary aldosteronism
• Congenital deafness

References

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