Disease-gene associations mined from literature

Literature associating SCN1B and long QT syndrome 2

SCN1B [ENSP00000396915]

Sodium channel, voltage-gated, type I, beta subunit; Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons; Immunoglobulin like domain containing

Synonyms:  SCN1B,  SCN1Bp,  hSCN1B,  B4DI92,  Q07699 ...

Linkouts:  STRING  Pharos  UniProt  OMIM