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.
Other Names
CAC1S_HUMAN; CACH1; CACN1; CACNL1A3; calcium channel, voltage-dependent, L type, alpha 1S subunit; Cav1.1; CCHL1A3; DHPR; dihydropyridine receptor; dihydropyridine-sensitive L-type calcium channel alpha-1 subunit; HOKPP; HypoKPP; hypoPP; MHS5; Voltage-dependent L-type calcium channel subunit alpha-1S; voltage-gated calcium channel subunit alpha Cav1.1
Related Genetics Topics
Identifiers
- NCBI Gene: 779
- OMIM: 114208
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
