DISEASES

Disease-gene associations mined from literature

Literature associating SCN3A and Dravet syndrome

SCN3A [ENSP00000283254]

Sodium channel protein type 3 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, forms a sodium- selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:24157691, PubMed:28235671, PubMed:29466837). May contribute to the regulation of serotonin/5- hydroxytryptamine release by enterochromaffin cells (By similarity). In pancreatic endocrine cells, required for both glucagon and glucose- induced insulin secretion (By similarity). ; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.3/SCN3A subfamily.

Synonyms:  SCN3A,  SCN3Ap,  hSCN3A,  A0A1W2PQ58,  A0A1W2PRD1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM