DISEASES

Disease-gene associations mined from literature

Literature associating SCN2B and sudden infant death syndrome

SCN2B [ENSP00000278947]

Sodium channel, voltage-gated, type II, beta subunit; Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity); Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.

Synonyms:  SCN2B,  SCN2Bp,  hSCN2B,  O60939,  Q5U0K8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM