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DEE6B

Chr 2

sodium voltage-gated channel alpha subunit 1

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

NCBI Gene: 6323

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.

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]

ResearchGenerating clinical summary…

Clinical Summary— DEE6B

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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE6B?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429