Also known asCACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
The CACNA1S gene provides instructions for making a protein called calcium voltage-gated channel subunit alpha1S. This protein is a subunit of a larger protein called a voltage-gated calcium channel, which is found in the membranes of cells in the body. Voltage-gated calcium channels are responsible for the flow of calcium ions into cells, and they play a key role in the regulation of a number of important functions in the body, including muscle contraction, hormone secretion, and the generation of nerve impulses.
Mutations in the CACNA1S gene can cause a rare inherited disorder called Timothy syndrome, which is characterized by abnormal development of the heart and other organs, as well as abnormal physical features. Timothy syndrome is caused by a gain-of-function mutation in the CACNA1S gene, which means that the mutated protein has increased activity compared to the normal protein. Symptoms of Timothy syndrome can include a prolonged QT interval on an electrocardiogram (ECG), which can lead to a higher risk of abnormal heart rhythms, as well as a range of other symptoms such as immune system problems, developmental delays, and a characteristic facial appearance. Treatment for Timothy syndrome may include medications to control heart rhythm problems and other medical therapies to manage symptoms.