Symbol: Name: ID: |
SCN8A sodium channel, voltage gated, type VIII, alpha subunit GFS:520 |
Gene name: | SCN8A |
Chromosome: | 12q13.1 |
Previous Symbols: | MED |
Previous Names: | sodium channel, voltage gated, type VIII, alpha polypeptide |
Aliases: | Nav1.6, NaCh6, PN4, CerIII |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:103169 | Rat Genome Database ID: | RGD:3638 |
HGNC ID: | HGNC:10596 | RefSeq IDs: | NM_001177984 |
Entrez Gene ID: | 6334 | Ensembl Gene ID: | ENSG00000196876 |
VEGA IDs: | UniProt ID: | Q9UQD0 | |
UCSC ID: | uc001ryw.2 | OMIM ID: | 600702 |
Pubmed: | PMID7670495 PMID 9828131 PMID 16382098 | ||
CCDS IDs: | CCDSCCDS44891.1 |
SCN8A encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation
Products for SCN8A gene
Catalog | Product Name | Application | Company |
GFS:E00520 | sodium channel, voltage gated, type VIII, alpha subunit; ELISA kit | ELISA | n/a |
GFS:A00520 | sodium channel, voltage gated, type VIII, alpha subunit; Anti | ANTIBODIES | n/a |
GFS:P00520 | sodium channel, voltage gated, type VIII, alpha subunit; Protien | Protien | n/a |