Literature associating SCN5A and congenital myasthenic syndrome 5
Sodium channel, voltage-gated, type V, alpha subunit; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels; Sodium voltage-gated channel alpha subunits
Synonyms: SCN5A, SCN5Ap, hSCN5A, A3EY20, A3EY21 ...