Symbol: Name: ID: |
SCN1A sodium channel, voltage-gated, type I, alpha subunit GFS:510 |
Gene name: | SCN1A |
Chromosome: | 2q24.3 |
Previous Symbols: | SCN1, FEB3 |
Previous Names: | febrile convulsions 3 |
Aliases: | Nav1.1, GEFSP2, HBSCI, NAC1, SMEI |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98246 | Rat Genome Database ID: | RGD:69364 |
HGNC ID: | HGNC:10585 | RefSeq IDs: | NM_001165963 |
Entrez Gene ID: | 6323 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000044173 | UniProt ID: | P35498 |
UCSC ID: | uc010zcz.1 | OMIM ID: | 182389 |
Pubmed: | PMID8062593 PMID 16382098 PMID 11823106 | ||
CCDS IDs: | CCDSCCDS33316.1 |
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. 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.
Products for SCN1A gene
Catalog | Product Name | Application | Company |
GFS:E00510 | sodium channel, voltage-gated, type I, alpha subunit; ELISA kit | ELISA | n/a |
GFS:A00510 | sodium channel, voltage-gated, type I, alpha subunit; Anti | ANTIBODIES | n/a |
GFS:P00510 | sodium channel, voltage-gated, type I, alpha subunit; Protien | Protien | n/a |