CACNA1S

CACNA1S is a gene that in humans encodes the alpha-1S subunit of the voltage-dependent calcium channel. This subunit plays a key role in excitation-contraction coupling for skeletal muscles. Mutations in this gene have been associated with hypokalemic periodic paralysis, malignant hyperthermia susceptibility, and central core disease.

Function

The CACNA1S gene provides instructions for making one part (the alpha-1S subunit) of a calcium channel. This channel, known as the L-type voltage-dependent calcium channel, controls the flow of calcium ions into cells. The alpha-1S subunit forms the hole (pore) through which calcium ions can flow.

Clinical significance

Mutations in the CACNA1S gene can cause several conditions. These include hypokalemic periodic paralysis, malignant hyperthermia susceptibility, and central core disease.

Hypokalemic periodic paralysis

Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness. Mutations in the CACNA1S gene can cause this condition by reducing the flow of calcium ions into cells, which disrupts normal muscle function.

Malignant hyperthermia susceptibility

Malignant hyperthermia susceptibility is a life-threatening reaction to certain drugs used during general anesthesia. Mutations in the CACNA1S gene can cause this condition by increasing the flow of calcium ions into cells, which can trigger a dangerous increase in body temperature.

Central core disease

Central core disease is a disorder that weakens muscles and causes problems with movement. Mutations in the CACNA1S gene can cause this condition by disrupting the normal function of the calcium channel, which can lead to muscle weakness and other symptoms.

See also

• Voltage-dependent calcium channel
• Hypokalemic periodic paralysis
• Malignant hyperthermia
• Central core disease

References

CACNA1S Resources
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