Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom.
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.
Contains an interchain disulfide bond with SCN2A.
N-glycosylated.
Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family.
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.
Proteins
24969Da
We found 3 products in 1 category
ab80539
ab219816