Symbol: Name: ID: |
SCN4A sodium channel, voltage-gated, type IV, alpha subunit GFS:516 |
Gene name: | SCN4A |
Chromosome: | 17q23.3 |
Previous Symbols: | HYKPP |
Previous Names: | |
Aliases: | Nav1.4, HYPP, SkM1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98250 | Rat Genome Database ID: | RGD:3636 |
HGNC ID: | HGNC:10591 | RefSeq IDs: | NM_000334 |
Entrez Gene ID: | 6329 | Ensembl Gene ID: | ENSG00000007314 |
VEGA IDs: | UniProt ID: | P35499 | |
UCSC ID: | uc002jds.1 | OMIM ID: | 603967 |
Pubmed: | PMID1654742 PMID 1659948 PMID 16382098 | ||
CCDS IDs: | CCDSCCDS45761.1 |
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
This protein 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. This sodium channel may be present in both denervated and innervated skeletal muscle
Products for SCN4A gene
Catalog | Product Name | Application | Company |
GFS:E00516 | sodium channel, voltage-gated, type IV, alpha subunit; ELISA kit | ELISA | n/a |
GFS:A00516 | sodium channel, voltage-gated, type IV, alpha subunit; Anti | ANTIBODIES | n/a |
GFS:P00516 | sodium channel, voltage-gated, type IV, alpha subunit; Protien | Protien | n/a |