DISEASES

Disease-gene associations mined from literature

Literature associating SCN2A and neonatal period electroclinical syndrome

SCN2A [ENSP00000364586]

Sodium channel, voltage-gated, type II, alpha subunit; 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; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.

Synonyms:  SCN2A,  SCN2Ap,  hSCN2A,  A8K0U1,  F8T7W7 ...

Linkouts:  STRING  Pharos  UniProt