SCN4A : sodium voltage-gated channel alpha subunit 4

Description

The SCN4A (sodium voltage-gated channel alpha subunit 4) is a protein-coding gene located on chromosome 17.

The SCN4A gene provides instructions for making a critical part (the alpha subunit) of sodium channels that are abundant in muscles used for movement (skeletal muscles). For the body to move, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of ions, including sodium, into skeletal muscle cells. Channels made with the SCN4A protein control the flow of sodium ions into these cells.

The SCN4A gene product forms the pore of a voltage-gated sodium channel, allowing sodium ions to flow across the cell membrane according to their electrochemical gradient. This channel undergoes transitions between resting, activated, and inactivated states, essential for proper muscle function. Mutations in SCN4A can lead to various muscle disorders.

SCN4A is also known as CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1.

Associated Diseases

• Postsynaptic congenital myasthenic syndromes
• Paramyotonia congenita
• Hypokalemic periodic paralysis, type 2
• Acetazolamide-responsive myotonia
• Myotonia permanens
• Myotonia fluctuans
• Hypokalemic periodic paralysis, type 1
• Hyperkalemic periodic paralysis
• Myasthenic syndrome, congenital, 16
• Congenital myopathy 22B, severe fetal
• Congenital myopathy 22A, classic
• Myotonia, potassium-aggravated
• Paramyotonia congenita of Von Eulenburg
• Hypokalemic periodic paralysis
• Potassium-aggravated myotonia
• Congenital myasthenic syndrome