Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

DEE6B

Chr 2AD

sodium voltage-gated channel alpha subunit 1

Also known as: DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3

NCBI Gene: 6323 OMIM: 619317

This gene encodes a voltage-dependent sodium channel alpha subunit that forms the pore-forming component of sodium channels essential for generating and propagating action potentials in neurons and muscle cells. Mutations cause developmental and epileptic encephalopathy 6B, a non-Dravet form of epileptic encephalopathy that typically manifests in early childhood. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

OMIM ResearchGenerating clinical summary…