CACNA1S : calcium voltage-gated channel subunit alpha1 S

Description

The CACNA1S (calcium voltage-gated channel subunit alpha1 S) is a protein-coding gene located on chromosome 1.

The CACNA1S gene provides instructions for making the main piece (subunit) of a structure called a calcium channel. Channels containing the CACNA1S protein are found in muscles used for movement (skeletal muscles). These skeletal muscle calcium channels play a key role in a process called excitation-contraction coupling, by which electrical signals (excitation) trigger muscle tensing (contraction).Calcium channels made with the CACNA1S subunit are located in the outer membrane of muscle cells, so they can transmit electrical signals from the cell surface to inside the cell. The channels interact with another type of calcium channel called ryanodine receptor 1 (RYR1) channels (produced from the RYR1 gene). RYR1 channels are located in the membrane of a structure inside the cell that stores calcium ions. Signals transmitted by CACNA1S-containing channels turn on (activate) RYR1 channels, which then release calcium ions inside the cells. The resulting increase in calcium ion concentration within muscle cells stimulates muscles to contract, allowing the body to move.

The CACNA1S gene encodes the alpha-1S subunit, a pore-forming component of voltage-gated calcium channels. This subunit is responsible for generating L-type calcium currents in skeletal muscle, which are crucial for excitation-contraction coupling. These channels, categorized as 'high-voltage activated' (HVA), interact with RYR1, triggering calcium release from the sarcoplasmic reticulum, ultimately leading to muscle contraction.

CACNA1S is also known as CACNL1A3, CCHL1A3, CMYO18, CMYP18, Cav1.1, DHPRM, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing