DISEASES

Disease-gene associations mined from literature

Literature associating SCN4A and congenital myasthenic syndrome

SCN4A [ENSP00000396320]

Sodium channel protein type 4 subunit alpha; Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states (PubMed:12766226, PubMed:29992740, PubMed:30190309, PubMed:15318338, PubMed:16890191, PubMed:18690054, PubMed:17898326, PubMed:19347921, PubMed:25707578, PubMed:26700687). Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26700687, PubMed:26659129). ECO:0000269|PubMed:16890191, ECO:0000269|PubMed:17898326, ECO:0000269|PubMed:18690054, ECO:0000269|PubMed:19347921, ECO:0000269|PubMed:25707578, ECO:0000269|PubMed:26659129, ECO:0000269|PubMed:26700687, ECO:0000269|PubMed:29992740,; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily.

Synonyms:  SCN4A,  SCN4Ap,  hSCN4A,  P35499,  P35499p ...

Linkouts:  STRING  Pharos  UniProt  OMIM