Disease-gene associations mined from literature

Literature associating SCN5A and Ebstein anomaly

SCN5A [ENSP00000410257]

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 ...

Linkouts:  STRING  Pharos  UniProt