Scn4a

Scn4a (pronounced as "Ess-see-en-four-ay") is a gene that encodes the alpha subunit of the voltage-gated sodium channel, Nav1.4. This channel is primarily expressed in skeletal muscle cells and is responsible for the initiation and propagation of action potentials in these cells.

Etymology

The term "Scn4a" is an abbreviation for "Sodium Channel, Voltage Gated, Type IV Alpha Subunit". The name reflects its function and its position in the family of similar sodium channels.

Function

Scn4a is crucial for the normal function of skeletal muscles. It is responsible for the generation and propagation of action potentials, which are electrical signals that trigger muscle contraction. Mutations in the Scn4a gene can lead to various neuromuscular disorders, including Hyperkalemic periodic paralysis, Paramyotonia congenita, and Potassium-aggravated myotonia.

Related Terms

• Action potential
• Sodium channel
• Voltage-gated ion channel
• Neuromuscular disorder
• Hyperkalemic periodic paralysis
• Paramyotonia congenita
• Potassium-aggravated myotonia

See Also

• Scn5a
• Scn8a
• Scn9a

References

• GeneCards: Scn4a
• OMIM: Scn4a

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