Gene CACNA1S

Also known as

CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP

Overview

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.

NutraHacker Raw DNA Analysis Products that include this gene

• Critical Genetics Basic Report
• Whole Genome Sequencing Critical Genetics Report
• Whole Genome Sequencing True Pharmacogenetics Panel

Upload raw DNA data to get your very own analysis of gene CACNA1S through your personalized Critical Genetics Basic Report.