Sodium channel protein type 3 subunit alpha

Definition:

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. May contribute to the regulation of serotonin/5-hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose-induced insulin secretion (By similarity).

References:

[1]. Tyra Lamar, et al. SCN3A deficiency associated with increased seizure susceptibility. Neurobiol Dis. 2017 Jun;102:38-48. [Content Brief]

[2]. Tariq Zaman, et al. Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. [Content Brief]

[3]. Carlos G Vanoye, et al. Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis. 2014 Feb;62:313-22. [Content Brief]

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