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Function

Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:24297919). Modulates the activity of SCN1A/Nav1.1 (PubMed:33712547). Modulates the activity of SCN2A/Nav1.2 (PubMed:24297919).

Involvement in disease

Long QT syndrome 10

LQT10

A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

None

The disease is caused by variants affecting the gene represented in this entry.

Atrial fibrillation, familial, 17

ATFB17

A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Contains an interchain disulfide bond with SCN2A.

N-glycosylated.

Sequence similarities

Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family.

Tissue specificity

Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium.

Cellular localization

  • Cell membrane
  • Single-pass type I membrane protein

Alternative names

Sodium channel regulatory subunit beta-4, SCN4B

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

24969Da

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