דלג לתוכן הראשי

calcium voltage-gated channel subunit alpha1 S

ה 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).

Normal function

ה 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.

Conditions referring to this gene or chromosome

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

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  • 18 Aug 2020 | הגרסה האחרונה
  • 1 Mar 2020 | פורסם במקור

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