DISEASES

Disease-gene associations mined from literature

Literature associating SCN1B and Brugada syndrome 5

SCN1B [ENSP00000396915]

Sodium channel subunit beta-1; Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A. ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:18464934, ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:21994374, ECO:0000269|PubMed:29992740, ECO:0000269|PubMed:8125980,

Synonyms:  SCN1B,  SCN1Bp,  hSCN1B,  A0A1W2PR05,  A0A1W2PS68 ...

Linkouts:  STRING  Pharos  UniProt  OMIM