Disease-gene associations mined from literature

Literature associating SCN4A and neuromuscular junction disease

SCN4A [ENSP00000396320]

Sodium channel, voltage-gated, type IV, 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. This sodium channel may be present in both denervated and innervated skeletal muscle; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily.

Synonyms:  SCN4A,  SCN4Ap,  hSCN4A,  J3QQZ1,  P35499 ...

Linkouts:  STRING  Pharos  UniProt  OMIM