Disease-gene associations mined from literature

Literature associating SCN3A and early myoclonic encephalopathy

SCN3A [ENSP00000283254]

Sodium channel, voltage-gated, type III, 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; Sodium voltage-gated channel alpha subunits

Synonyms:  SCN3A,  SCN3Ap,  hSCN3A,  C9JBM7,  E7EUE6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM