DISEASES

Disease-gene associations mined from literature

Literature associating SCN8A and paramyotonia congenita of Von Eulenburg

SCN8A [ENSP00000346534]

Sodium channel protein type 8 subunit alpha; 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. Nav1.6/SCN8A subfamily.

Synonyms:  SCN8A,  SCN8Ap,  hSCN8A,  A0A1B0GVD4,  A0A1B0GVM8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM