GENE NAME | SCN1B |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000105711 |
ENTREZ ID | 6324 |
UNIPROT ACCESSION NUMBER | Q07699 |
GO MOLECULAR FUNCTION | sodium channel regulator activity; sodium channel inhibitor activity; voltage-gated ion channel activity; sodium channel activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1266738; R-HSA-5576891; R-HSA-397014; R-HSA-445095; R-HSA-373760; R-HSA-9675108; R-HSA-422475; R-HSA-5576892; hsa04261 |
1 combination linked to SCN1B | OLI829 |
1 variant linked to SCN1B | SCN1B:c.492T>C, p.Tyr164Tyr |
1 disease linked to SCN1B | Benign familial infantile epilepsy |